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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: 9-127813423-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127813423&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127813423,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000373247.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Ser528Thr",
"transcript": "NM_004957.6",
"protein_id": "NP_004948.4",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 587,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": "ENST00000373247.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Ser528Thr",
"transcript": "ENST00000373247.7",
"protein_id": "ENSP00000362344.2",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 587,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1626,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.1571G>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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1505G>C",
"hgvs_p": "p.Ser502Thr",
"transcript": "NM_001288803.1",
"protein_id": "NP_001275732.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 561,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1505G>C",
"hgvs_p": "p.Ser502Thr",
"transcript": "ENST00000393706.6",
"protein_id": "ENSP00000377309.2",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 561,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1433G>C",
"hgvs_p": "p.Ser478Thr",
"transcript": "NM_001018078.2",
"protein_id": "NP_001018088.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1433G>C",
"hgvs_p": "p.Ser478Thr",
"transcript": "ENST00000373225.7",
"protein_id": "ENSP00000362322.3",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1433G>C",
"hgvs_p": "p.Ser478Thr",
"transcript": "XM_047423126.1",
"protein_id": "XP_047279082.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "ENST00000373228.5",
"protein_id": "ENSP00000362325.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.409G>C",
"hgvs_p": null,
"transcript": "ENST00000475270.1",
"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": 560,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.1631G>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": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.*240G>C",
"hgvs_p": null,
"transcript": "ENST00000373228.5",
"protein_id": "ENSP00000362325.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.*307G>C",
"hgvs_p": null,
"transcript": "ENST00000630236.2",
"protein_id": "ENSP00000486766.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1853-2114C>G",
"hgvs_p": null,
"transcript": "ENST00000714077.1",
"protein_id": "ENSP00000519368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1742-2114C>G",
"hgvs_p": null,
"transcript": "ENST00000714076.1",
"protein_id": "ENSP00000519367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.709+100G>C",
"hgvs_p": null,
"transcript": "ENST00000467826.6",
"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": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1483+100G>C",
"hgvs_p": null,
"transcript": "XM_005251864.5",
"protein_id": "XP_005251921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.1333+100G>C",
"hgvs_p": null,
"transcript": "XM_047423127.1",
"protein_id": "XP_047279083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.*139G>C",
"hgvs_p": null,
"transcript": "ENST00000488506.5",
"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": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"dbsnp": "rs34354111",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07999253273010254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0783,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.68,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373247.7",
"gene_symbol": "FPGS",
"hgnc_id": 3824,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Ser528Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000714077.1",
"gene_symbol": "ENG",
"hgnc_id": 3349,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1853-2114C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}