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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: 19-12763301-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12763301&ref=C&alt=T&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": "HOOK2",
"hgnc_id": 19885,
"hgvs_c": "c.2243G>A",
"hgvs_p": "p.Arg748His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001400041.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 117,
"alphamissense_prediction": null,
"alphamissense_score": 0.0792,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10115903615951538,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 719,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_013312.3",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2141G>A",
"hgvs_p": "p.Arg714His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397668.8",
"protein_coding": true,
"protein_id": "NP_037444.2",
"strand": false,
"transcript": "NM_013312.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 719,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000397668.8",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2141G>A",
"hgvs_p": "p.Arg714His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013312.3",
"protein_coding": true,
"protein_id": "ENSP00000380785.2",
"strand": false,
"transcript": "ENST00000397668.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000264827.9",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2135G>A",
"hgvs_p": "p.Arg712His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264827.4",
"strand": false,
"transcript": "ENST00000264827.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 815,
"aa_ref": "R",
"aa_start": 810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2448,
"cds_start": 2429,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894580.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2429G>A",
"hgvs_p": "p.Arg810His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564639.1",
"strand": false,
"transcript": "ENST00000894580.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2321,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894575.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564634.1",
"strand": false,
"transcript": "ENST00000894575.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 778,
"aa_ref": "R",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894576.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2318G>A",
"hgvs_p": "p.Arg773His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564635.1",
"strand": false,
"transcript": "ENST00000894576.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 2262,
"cds_start": 2243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001400041.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2243G>A",
"hgvs_p": "p.Arg748His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386970.1",
"strand": false,
"transcript": "NM_001400041.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000914424.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584483.1",
"strand": false,
"transcript": "ENST00000914424.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001100176.2",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2135G>A",
"hgvs_p": "p.Arg712His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093646.1",
"strand": false,
"transcript": "NM_001100176.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 2151,
"cds_start": 2132,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894574.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Arg711His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564633.1",
"strand": false,
"transcript": "ENST00000894574.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 715,
"aa_ref": "R",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894579.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Arg710His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564638.1",
"strand": false,
"transcript": "ENST00000894579.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 715,
"aa_ref": "R",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000961673.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Arg710His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631732.1",
"strand": false,
"transcript": "ENST00000961673.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 714,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2145,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000961672.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Arg709His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631731.1",
"strand": false,
"transcript": "ENST00000961672.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 712,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2120,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894578.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2120G>A",
"hgvs_p": "p.Arg707His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564637.1",
"strand": false,
"transcript": "ENST00000894578.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 711,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2136,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000914426.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2117G>A",
"hgvs_p": "p.Arg706His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584485.1",
"strand": false,
"transcript": "ENST00000914426.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 711,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2136,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000961674.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2117G>A",
"hgvs_p": "p.Arg706His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631733.1",
"strand": false,
"transcript": "ENST00000961674.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2094,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000961675.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Arg692His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631734.1",
"strand": false,
"transcript": "ENST00000961675.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 694,
"aa_ref": "R",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2066,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894581.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2066G>A",
"hgvs_p": "p.Arg689His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564640.1",
"strand": false,
"transcript": "ENST00000894581.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 690,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 2073,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000914425.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2054G>A",
"hgvs_p": "p.Arg685His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584484.1",
"strand": false,
"transcript": "ENST00000914425.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 2043,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000894577.1",
"gene_hgnc_id": 19885,
"gene_symbol": "HOOK2",
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Arg675His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564636.1",
"strand": false,
"transcript": "ENST00000894577.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001400043.1",
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}