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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: 15-80173123-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80173123&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAH",
"hgnc_id": 3579,
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000137.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9791,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9444576501846313,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000137.4",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000561421.6",
"protein_coding": true,
"protein_id": "NP_000128.1",
"strand": true,
"transcript": "NM_000137.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000561421.6",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000137.4",
"protein_coding": true,
"protein_id": "ENSP00000453347.2",
"strand": true,
"transcript": "ENST00000561421.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000539156.5",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "n.2844T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000539156.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1362,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874657.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.918T>G",
"hgvs_p": "p.Phe306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544716.1",
"strand": true,
"transcript": "ENST00000874657.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1362,
"cds_start": 918,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929198.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.918T>G",
"hgvs_p": "p.Phe306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599257.1",
"strand": true,
"transcript": "ENST00000929198.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374377.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361306.1",
"strand": true,
"transcript": "NM_001374377.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374380.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361309.1",
"strand": true,
"transcript": "NM_001374380.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000261755.9",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261755.5",
"strand": true,
"transcript": "ENST00000261755.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000407106.5",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385080.1",
"strand": true,
"transcript": "ENST00000407106.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000874652.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544711.1",
"strand": true,
"transcript": "ENST00000874652.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000874653.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544712.1",
"strand": true,
"transcript": "ENST00000874653.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000874654.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544713.1",
"strand": true,
"transcript": "ENST00000874654.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000874656.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544715.1",
"strand": true,
"transcript": "ENST00000874656.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960159.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630218.1",
"strand": true,
"transcript": "ENST00000960159.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1260,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960160.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630219.1",
"strand": true,
"transcript": "ENST00000960160.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1257,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000960162.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630221.1",
"strand": true,
"transcript": "ENST00000960162.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1257,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960163.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630222.1",
"strand": true,
"transcript": "ENST00000960163.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "F",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1242,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929199.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.798T>G",
"hgvs_p": "p.Phe266Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599258.1",
"strand": true,
"transcript": "ENST00000929199.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 397,
"aa_ref": "F",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1194,
"cds_start": 750,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960164.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.750T>G",
"hgvs_p": "p.Phe250Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630223.1",
"strand": true,
"transcript": "ENST00000960164.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 385,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1375,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1158,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000874655.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544714.1",
"strand": true,
"transcript": "ENST00000874655.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 385,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1158,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960161.1",
"gene_hgnc_id": 3579,
"gene_symbol": "FAH",
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}