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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: 17-27882649-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27882649&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LYRM9",
"hgnc_id": 27314,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001076680.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000266202",
"hgnc_id": null,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000582441.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.7656,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8232995271682739,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 113,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001076680.3",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379102.8",
"protein_coding": true,
"protein_id": "NP_001070148.1",
"strand": false,
"transcript": "NM_001076680.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 113,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000379102.8",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001076680.3",
"protein_coding": true,
"protein_id": "ENSP00000368396.3",
"strand": false,
"transcript": "ENST00000379102.8",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 159,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 113,
"cds_end": null,
"cds_length": 480,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000582441.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000266202",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462879.1",
"strand": false,
"transcript": "ENST00000582441.1",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 92,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 807,
"cdna_start": 131,
"cds_end": null,
"cds_length": 279,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000508862.5",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426554.1",
"strand": false,
"transcript": "ENST00000508862.5",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 86,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 107,
"cds_end": null,
"cds_length": 261,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460380.6",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464378.1",
"strand": false,
"transcript": "ENST00000460380.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 86,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 432,
"cdna_start": 176,
"cds_end": null,
"cds_length": 261,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000503642.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421807.1",
"strand": false,
"transcript": "ENST00000503642.1",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 335,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000379103.7",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368397.2",
"strand": false,
"transcript": "ENST00000379103.7",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1566,
"cdna_start": 217,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860754.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530813.1",
"strand": false,
"transcript": "ENST00000860754.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 326,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860755.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530814.1",
"strand": false,
"transcript": "ENST00000860755.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 288,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860756.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530815.1",
"strand": false,
"transcript": "ENST00000860756.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 197,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860757.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530816.1",
"strand": false,
"transcript": "ENST00000860757.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 133,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860758.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530817.1",
"strand": false,
"transcript": "ENST00000860758.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 78,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": 101,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860759.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530818.1",
"strand": false,
"transcript": "ENST00000860759.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 322,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860760.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530819.1",
"strand": false,
"transcript": "ENST00000860760.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 148,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860761.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530820.1",
"strand": false,
"transcript": "ENST00000860761.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": 379,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860762.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530821.1",
"strand": false,
"transcript": "ENST00000860762.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 78,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 299,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860763.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530822.1",
"strand": false,
"transcript": "ENST00000860763.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 78,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 384,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860764.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530823.1",
"strand": false,
"transcript": "ENST00000860764.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 78,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 171,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860765.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530824.1",
"strand": false,
"transcript": "ENST00000860765.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 483,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860766.1",
"gene_hgnc_id": 27314,
"gene_symbol": "LYRM9",
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Leu16Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530825.1",
"strand": false,
"transcript": "ENST00000860766.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 78,
"aa_ref": "L",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 318,
"cds_end": null,
"cds_length": 237,
"cds_start": 46,
"consequences": [
"missense_variant"
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