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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: 16-58526-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58526&ref=C&alt=A&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": "RHBDF1",
"hgnc_id": 20561,
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_022450.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.3943,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18552246689796448,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_022450.5",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262316.10",
"protein_coding": true,
"protein_id": "NP_071895.3",
"strand": false,
"transcript": "NM_022450.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000262316.10",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022450.5",
"protein_coding": true,
"protein_id": "ENSP00000262316.5",
"strand": false,
"transcript": "ENST00000262316.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 891,
"aa_ref": "K",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 2649,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2490,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944434.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2490G>T",
"hgvs_p": "p.Lys830Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614493.1",
"strand": false,
"transcript": "ENST00000944434.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 891,
"aa_ref": "K",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2490,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944435.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2490G>T",
"hgvs_p": "p.Lys830Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614494.1",
"strand": false,
"transcript": "ENST00000944435.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 891,
"aa_ref": "K",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2490,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944437.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2490G>T",
"hgvs_p": "p.Lys830Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614496.1",
"strand": false,
"transcript": "ENST00000944437.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 891,
"aa_ref": "K",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2490,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944440.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2490G>T",
"hgvs_p": "p.Lys830Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614499.1",
"strand": false,
"transcript": "ENST00000944440.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000886898.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556957.1",
"strand": false,
"transcript": "ENST00000886898.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000886900.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556959.1",
"strand": false,
"transcript": "ENST00000886900.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 2489,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000886902.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556961.1",
"strand": false,
"transcript": "ENST00000886902.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 4223,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000886904.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556963.1",
"strand": false,
"transcript": "ENST00000886904.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3067,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000917250.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587309.1",
"strand": false,
"transcript": "ENST00000917250.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000944433.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614492.1",
"strand": false,
"transcript": "ENST00000944433.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944436.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614495.1",
"strand": false,
"transcript": "ENST00000944436.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 855,
"aa_ref": "K",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944444.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2382G>T",
"hgvs_p": "p.Lys794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614503.1",
"strand": false,
"transcript": "ENST00000944444.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 854,
"aa_ref": "K",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2379,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944442.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2379G>T",
"hgvs_p": "p.Lys793Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614501.1",
"strand": false,
"transcript": "ENST00000944442.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 846,
"aa_ref": "K",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 2541,
"cds_start": 2355,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944439.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2355G>T",
"hgvs_p": "p.Lys785Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614498.1",
"strand": false,
"transcript": "ENST00000944439.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 839,
"aa_ref": "K",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2334,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944443.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2334G>T",
"hgvs_p": "p.Lys778Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614502.1",
"strand": false,
"transcript": "ENST00000944443.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 837,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944438.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2328G>T",
"hgvs_p": "p.Lys776Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614497.1",
"strand": false,
"transcript": "ENST00000944438.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 837,
"aa_ref": "K",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2328,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944441.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2328G>T",
"hgvs_p": "p.Lys776Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614500.1",
"strand": false,
"transcript": "ENST00000944441.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 829,
"aa_ref": "K",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2304,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000886903.1",
"gene_hgnc_id": 20561,
"gene_symbol": "RHBDF1",
"hgvs_c": "c.2304G>T",
"hgvs_p": "p.Lys768Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556962.1",
"strand": false,
"transcript": "ENST00000886903.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 810,
"aa_ref": "K",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2247,
"consequences": [
"missense_variant"
],
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