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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: 15-80158170-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80158170&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 80158170,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000561421.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "NM_000137.4",
"protein_id": "NP_000128.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 419,
"cds_start": 192,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": "ENST00000561421.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000561421.6",
"protein_id": "ENSP00000453347.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 419,
"cds_start": 192,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": "NM_000137.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.2220G>T",
"hgvs_p": null,
"transcript": "ENST00000539156.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "NM_001374377.1",
"protein_id": "NP_001361306.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 419,
"cds_start": 192,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "NM_001374380.1",
"protein_id": "NP_001361309.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 419,
"cds_start": 192,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000261755.9",
"protein_id": "ENSP00000261755.5",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 419,
"cds_start": 192,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000407106.5",
"protein_id": "ENSP00000385080.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 419,
"cds_start": 192,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000537726.5",
"protein_id": "ENSP00000507608.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 174,
"cds_start": 192,
"cds_end": null,
"cds_length": 525,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000558022.5",
"protein_id": "ENSP00000453152.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 160,
"cds_start": 192,
"cds_end": null,
"cds_length": 483,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000558767.6",
"protein_id": "ENSP00000507680.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 160,
"cds_start": 192,
"cds_end": null,
"cds_length": 483,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His",
"transcript": "ENST00000684363.1",
"protein_id": "ENSP00000507314.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 133,
"cds_start": 192,
"cds_end": null,
"cds_length": 402,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.272G>T",
"hgvs_p": null,
"transcript": "ENST00000561369.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.1679G>T",
"hgvs_p": null,
"transcript": "ENST00000646551.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.267G>T",
"hgvs_p": null,
"transcript": "ENST00000682012.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.69G>T",
"hgvs_p": null,
"transcript": "ENST00000683593.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.237G>T",
"hgvs_p": null,
"transcript": "ENST00000684569.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"dbsnp": "rs80338894",
"frequency_reference_population": 0.00004046612,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000433265,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45949020981788635,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2405,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.756,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.9,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.99998851376936,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000561421.6",
"gene_symbol": "FAH",
"hgnc_id": 3579,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Gln64His"
}
],
"clinvar_disease": "T-substance anomaly,Tyrosinemia type I,Tyrosinemia type II,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:11 O:1",
"phenotype_combined": "Tyrosinemia type I|not provided|Tyrosinemia type II|T-substance anomaly",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}