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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: 8-38234452-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38234452&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38234452,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015214.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "NM_015214.3",
"protein_id": "NP_056029.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397166.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015214.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000397166.7",
"protein_id": "ENSP00000380352.2",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397166.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.-10G>T",
"hgvs_p": null,
"transcript": "ENST00000529642.1",
"protein_id": "ENSP00000436444.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529642.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000853787.1",
"protein_id": "ENSP00000523846.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 719,
"cds_start": 279,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853787.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "NM_001164232.2",
"protein_id": "NP_001157704.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164232.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "NM_001362911.2",
"protein_id": "NP_001349840.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362911.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "NM_001362912.2",
"protein_id": "NP_001349841.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362912.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "NM_001362914.2",
"protein_id": "NP_001349843.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362914.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000520272.6",
"protein_id": "ENSP00000429932.2",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520272.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000853780.1",
"protein_id": "ENSP00000523839.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853780.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000853781.1",
"protein_id": "ENSP00000523840.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853781.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000853786.1",
"protein_id": "ENSP00000523845.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853786.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000853790.1",
"protein_id": "ENSP00000523849.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853790.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000935428.1",
"protein_id": "ENSP00000605487.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935428.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970138.1",
"protein_id": "ENSP00000640197.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970138.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970139.1",
"protein_id": "ENSP00000640198.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970139.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970140.1",
"protein_id": "ENSP00000640199.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970140.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970142.1",
"protein_id": "ENSP00000640201.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970142.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970143.1",
"protein_id": "ENSP00000640202.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970143.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970145.1",
"protein_id": "ENSP00000640204.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970145.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970146.1",
"protein_id": "ENSP00000640205.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 711,
"cds_start": 279,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970146.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.279G>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000970144.1",
"protein_id": "ENSP00000640203.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 710,
"cds_start": 279,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Hereditary spastic paraplegia 54",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}