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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: 19-9413891-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9413891&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF266",
"hgnc_id": 13059,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001370374.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.7913,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10569965839385986,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370374.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000592904.7",
"protein_coding": true,
"protein_id": "NP_001357303.1",
"strand": false,
"transcript": "NM_001370374.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000592904.7",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370374.1",
"protein_coding": true,
"protein_id": "ENSP00000466714.2",
"strand": false,
"transcript": "ENST00000592904.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "I",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000588933.5",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1034T>G",
"hgvs_p": "p.Ile345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467151.1",
"strand": false,
"transcript": "ENST00000588933.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "I",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000590306.5",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1034T>G",
"hgvs_p": "p.Ile345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467315.1",
"strand": false,
"transcript": "ENST00000590306.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370375.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357304.1",
"strand": false,
"transcript": "NM_001370375.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001370384.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357313.1",
"strand": false,
"transcript": "NM_001370384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001370385.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357314.1",
"strand": false,
"transcript": "NM_001370385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859744.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529803.1",
"strand": false,
"transcript": "ENST00000859744.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859745.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529804.1",
"strand": false,
"transcript": "ENST00000859745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859746.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529805.1",
"strand": false,
"transcript": "ENST00000859746.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859747.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529806.1",
"strand": false,
"transcript": "ENST00000859747.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859748.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529807.1",
"strand": false,
"transcript": "ENST00000859748.1",
"transcript_support_level": null
},
{
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"aa_length": 616,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3391,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859749.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529808.1",
"strand": false,
"transcript": "ENST00000859749.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859750.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529809.1",
"strand": false,
"transcript": "ENST00000859750.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 616,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1862,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000859751.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529810.1",
"strand": false,
"transcript": "ENST00000859751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859752.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529811.1",
"strand": false,
"transcript": "ENST00000859752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859753.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529812.1",
"strand": false,
"transcript": "ENST00000859753.1",
"transcript_support_level": null
},
{
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"aa_length": 616,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1851,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859754.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529813.1",
"strand": false,
"transcript": "ENST00000859754.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859755.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529814.1",
"strand": false,
"transcript": "ENST00000859755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859756.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529815.1",
"strand": false,
"transcript": "ENST00000859756.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "I",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859757.1",
"gene_hgnc_id": 13059,
"gene_symbol": "ZNF266",
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Ile412Ser",
"intron_rank": null,
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