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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: 16-2263132-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2263132&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNPS1",
"hgnc_id": 10080,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_006711.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.8095,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25602269172668457,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 572,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_080594.4",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320225.10",
"protein_coding": true,
"protein_id": "NP_542161.1",
"strand": false,
"transcript": "NM_080594.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 572,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000320225.10",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080594.4",
"protein_coding": true,
"protein_id": "ENSP00000315859.5",
"strand": false,
"transcript": "ENST00000320225.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 623,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000301730.12",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301730.8",
"strand": false,
"transcript": "ENST00000301730.12",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 686,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397086.6",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380275.2",
"strand": false,
"transcript": "ENST00000397086.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 929,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000565678.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457723.1",
"strand": false,
"transcript": "ENST00000565678.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 990,
"cds_end": null,
"cds_length": 907,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000565870.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457110.1",
"strand": false,
"transcript": "ENST00000565870.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 655,
"cds_end": null,
"cds_length": 849,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000566458.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456352.1",
"strand": false,
"transcript": "ENST00000566458.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2046,
"cdna_start": 663,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001286625.1",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273554.1",
"strand": false,
"transcript": "NM_001286625.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 724,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006711.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006702.1",
"strand": false,
"transcript": "NM_006711.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000568631.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457820.1",
"strand": false,
"transcript": "ENST00000568631.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 283,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 622,
"cds_end": null,
"cds_length": 853,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000561518.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454461.1",
"strand": false,
"transcript": "ENST00000561518.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 282,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 384,
"cds_end": null,
"cds_length": 849,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286626.2",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273555.1",
"strand": false,
"transcript": "NM_001286626.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 257,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 384,
"cds_end": null,
"cds_length": 774,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286627.2",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273556.1",
"strand": false,
"transcript": "NM_001286627.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 257,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 329,
"cds_end": null,
"cds_length": 774,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000567147.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454513.1",
"strand": false,
"transcript": "ENST00000567147.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 918,
"cdna_start": 259,
"cds_end": null,
"cds_length": 636,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000569598.6",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Arg34Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457987.2",
"strand": false,
"transcript": "ENST00000569598.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 168,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 778,
"cds_end": null,
"cds_length": 508,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564601.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457690.1",
"strand": false,
"transcript": "ENST00000564601.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 149,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 572,
"cds_end": null,
"cds_length": 450,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564764.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457378.1",
"strand": false,
"transcript": "ENST00000564764.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 138,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 778,
"cds_end": null,
"cds_length": 419,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000566180.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457618.1",
"strand": false,
"transcript": "ENST00000566180.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2435,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005255048.3",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255105.1",
"strand": false,
"transcript": "XM_005255048.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005255049.5",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255106.1",
"strand": false,
"transcript": "XM_005255049.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 305,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 918,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047433516.1",
"gene_hgnc_id": 10080,
"gene_symbol": "RNPS1",
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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