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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: 8-38252147-CC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38252147&ref=CC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_015214.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015214.3",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397166.7",
"protein_coding": true,
"protein_id": "NP_056029.2",
"strand": true,
"transcript": "NM_015214.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397166.7",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015214.3",
"protein_coding": true,
"protein_id": "ENSP00000380352.2",
"strand": true,
"transcript": "ENST00000397166.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 719,
"aa_ref": "P",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853787.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1501_1502delCCinsAG",
"hgvs_p": "p.Pro501Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523846.1",
"strand": true,
"transcript": "ENST00000853787.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4599,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164232.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157704.1",
"strand": true,
"transcript": "NM_001164232.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362911.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349840.1",
"strand": true,
"transcript": "NM_001362911.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362912.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349841.1",
"strand": true,
"transcript": "NM_001362912.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4735,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362914.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349843.1",
"strand": true,
"transcript": "NM_001362914.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520272.6",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429932.2",
"strand": true,
"transcript": "ENST00000520272.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853780.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523839.1",
"strand": true,
"transcript": "ENST00000853780.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3677,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853781.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523840.1",
"strand": true,
"transcript": "ENST00000853781.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853786.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523845.1",
"strand": true,
"transcript": "ENST00000853786.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853790.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523849.1",
"strand": true,
"transcript": "ENST00000853790.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935428.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605487.1",
"strand": true,
"transcript": "ENST00000935428.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970138.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640197.1",
"strand": true,
"transcript": "ENST00000970138.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970139.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640198.1",
"strand": true,
"transcript": "ENST00000970139.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970140.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640199.1",
"strand": true,
"transcript": "ENST00000970140.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970142.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640201.1",
"strand": true,
"transcript": "ENST00000970142.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970143.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640202.1",
"strand": true,
"transcript": "ENST00000970143.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970145.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640204.1",
"strand": true,
"transcript": "ENST00000970145.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970146.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1477_1478delCCinsAG",
"hgvs_p": "p.Pro493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640205.1",
"strand": true,
"transcript": "ENST00000970146.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970144.1",
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