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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: 8-38252245-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38252245&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4",
"BP6",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_015214.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BP7,BS1",
"acmg_score": -7,
"allele_count_reference_population": 241,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 54,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23100000619888306,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_015214.3",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000397166.7",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 719,
"aa_ref": "Y",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853787.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Tyr533Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4599,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001164232.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362911.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362912.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4735,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362914.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000520272.6",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853780.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3677,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853781.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853786.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853790.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000935428.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970138.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
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"aa_length": 711,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970139.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970140.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
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"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 1714,
"cds_end": null,
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"cds_start": 1575,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970142.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640201.1",
"strand": true,
"transcript": "ENST00000970142.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970143.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
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"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970145.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970146.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Tyr525Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 710,
"aa_ref": "Y",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1572,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
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