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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: 9-127804389-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127804389&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127804389,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000373247.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "NM_004957.6",
"protein_id": "NP_004948.4",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 587,
"cds_start": 243,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": "ENST00000373247.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000373247.7",
"protein_id": "ENSP00000362344.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 587,
"cds_start": 243,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": "NM_004957.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.250G>C",
"hgvs_p": null,
"transcript": "ENST00000460181.5",
"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": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "NM_001288803.1",
"protein_id": "NP_001275732.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 561,
"cds_start": 243,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000393706.6",
"protein_id": "ENSP00000377309.2",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 561,
"cds_start": 243,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Leu31Leu",
"transcript": "NM_001018078.2",
"protein_id": "NP_001018088.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 537,
"cds_start": 93,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000373225.7",
"protein_id": "ENSP00000362322.3",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 537,
"cds_start": 93,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000373228.5",
"protein_id": "ENSP00000362325.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 375,
"cds_start": 243,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000630236.2",
"protein_id": "ENSP00000486766.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 375,
"cds_start": 243,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000431857.5",
"protein_id": "ENSP00000400007.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 263,
"cds_start": 93,
"cds_end": null,
"cds_length": 794,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Leu31Leu",
"transcript": "ENST00000423577.1",
"protein_id": "ENSP00000406328.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 193,
"cds_start": 93,
"cds_end": null,
"cds_length": 584,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Leu31Leu",
"transcript": "XM_047423126.1",
"protein_id": "XP_047279082.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 537,
"cds_start": 93,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "XM_005251864.5",
"protein_id": "XP_005251921.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 500,
"cds_start": 243,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.93G>C",
"hgvs_p": "p.Leu31Leu",
"transcript": "XM_047423127.1",
"protein_id": "XP_047279083.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 450,
"cds_start": 93,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.104G>C",
"hgvs_p": null,
"transcript": "ENST00000469310.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.236G>C",
"hgvs_p": null,
"transcript": "ENST00000475765.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.321G>C",
"hgvs_p": null,
"transcript": "ENST00000479147.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.236G>C",
"hgvs_p": null,
"transcript": "ENST00000479375.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.275G>C",
"hgvs_p": null,
"transcript": "ENST00000488307.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.238G>C",
"hgvs_p": null,
"transcript": "ENST00000496586.5",
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.310G>C",
"hgvs_p": null,
"transcript": "NR_110170.1",
"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": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.146+1327G>C",
"hgvs_p": null,
"transcript": "ENST00000481552.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"dbsnp": "rs34330923",
"frequency_reference_population": 0.00000433646,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": 0.000019691,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.187,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000373247.7",
"gene_symbol": "FPGS",
"hgnc_id": 3824,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}