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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: 12-112828349-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112828349&ref=A&alt=G&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": "RPH3A",
"hgnc_id": 17056,
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001143854.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0638,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08779510855674744,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001143854.2",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389385.9",
"protein_coding": true,
"protein_id": "NP_001137326.1",
"strand": true,
"transcript": "NM_001143854.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000389385.9",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001143854.2",
"protein_coding": true,
"protein_id": "ENSP00000374036.4",
"strand": true,
"transcript": "ENST00000389385.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 690,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 246,
"cds_end": null,
"cds_length": 2073,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000551052.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448297.1",
"strand": true,
"transcript": "ENST00000551052.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 254,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001347952.2",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334881.1",
"strand": true,
"transcript": "NM_001347952.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 243,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001347953.1",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334882.1",
"strand": true,
"transcript": "NM_001347953.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 407,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001347954.2",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334883.1",
"strand": true,
"transcript": "NM_001347954.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 297,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000415485.7",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405357.3",
"strand": true,
"transcript": "ENST00000415485.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 393,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000543106.6",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440384.2",
"strand": true,
"transcript": "ENST00000543106.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 458,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942157.1",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612216.1",
"strand": true,
"transcript": "ENST00000942157.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 254,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942158.1",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612217.1",
"strand": true,
"transcript": "ENST00000942158.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 694,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": 223,
"cds_end": null,
"cds_length": 2085,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000942159.1",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612218.1",
"strand": true,
"transcript": "ENST00000942159.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 690,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2073,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014954.4",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055769.2",
"strand": true,
"transcript": "NM_014954.4",
"transcript_support_level": null
},
{
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"aa_length": 645,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 125,
"cds_end": null,
"cds_length": 1938,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000548866.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450347.1",
"strand": true,
"transcript": "ENST00000548866.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 180,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 740,
"cdna_start": 226,
"cds_end": null,
"cds_length": 545,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000551593.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446780.1",
"strand": true,
"transcript": "ENST00000551593.5",
"transcript_support_level": 4
},
{
"aa_alt": "D",
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"aa_length": 162,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": 200,
"cds_end": null,
"cds_length": 491,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547728.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449613.1",
"strand": true,
"transcript": "ENST00000547728.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 132,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": 192,
"cds_end": null,
"cds_length": 401,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553114.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450216.1",
"strand": true,
"transcript": "ENST00000553114.5",
"transcript_support_level": 4
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 126,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": 211,
"cds_end": null,
"cds_length": 381,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547840.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000450382.1",
"strand": true,
"transcript": "ENST00000547840.5",
"transcript_support_level": 4
},
{
"aa_alt": "D",
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"aa_length": 124,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 579,
"cdna_start": 233,
"cds_end": null,
"cds_length": 377,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000551198.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447083.1",
"strand": true,
"transcript": "ENST00000551198.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
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"aa_length": 119,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 243,
"cds_end": null,
"cds_length": 360,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000552667.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449650.1",
"strand": true,
"transcript": "ENST00000552667.5",
"transcript_support_level": 4
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 114,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
"cdna_start": 223,
"cds_end": null,
"cds_length": 346,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000549769.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447505.1",
"strand": true,
"transcript": "ENST00000549769.5",
"transcript_support_level": 4
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 103,
"aa_ref": "N",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": 289,
"cds_end": null,
"cds_length": 312,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000548197.5",
"gene_hgnc_id": 17056,
"gene_symbol": "RPH3A",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Asn11Asp",
"intron_rank": null,
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