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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: 9-94603420-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94603420&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 94603420,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000507.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "NM_000507.4",
"protein_id": "NP_000498.2",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375326.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000507.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "ENST00000375326.9",
"protein_id": "ENSP00000364475.5",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000507.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375326.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.1146C>T",
"hgvs_p": "p.Leu382Leu",
"transcript": "ENST00000884868.1",
"protein_id": "ENSP00000554927.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 394,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884868.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.1146C>T",
"hgvs_p": "p.Leu382Leu",
"transcript": "ENST00000945615.1",
"protein_id": "ENSP00000615674.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 394,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945615.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Leu342Leu",
"transcript": "ENST00000945614.1",
"protein_id": "ENSP00000615673.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 354,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945614.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "NM_001127628.2",
"protein_id": "NP_001121100.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127628.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "ENST00000415431.5",
"protein_id": "ENSP00000408025.1",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415431.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "ENST00000884867.1",
"protein_id": "ENSP00000554926.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884867.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "ENST00000884869.1",
"protein_id": "ENSP00000554928.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884869.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "ENST00000884870.1",
"protein_id": "ENSP00000554929.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884870.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "ENST00000884871.1",
"protein_id": "ENSP00000554930.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 978,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884871.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Leu295Leu",
"transcript": "ENST00000945611.1",
"protein_id": "ENSP00000615670.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 307,
"cds_start": 885,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945611.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Leu280Leu",
"transcript": "ENST00000933250.1",
"protein_id": "ENSP00000603309.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 292,
"cds_start": 840,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933250.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Leu279Leu",
"transcript": "ENST00000945612.1",
"protein_id": "ENSP00000615671.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 291,
"cds_start": 837,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945612.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Leu261Leu",
"transcript": "ENST00000648117.1",
"protein_id": "ENSP00000498145.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 273,
"cds_start": 783,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648117.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.744C>T",
"hgvs_p": "p.Leu248Leu",
"transcript": "ENST00000945613.1",
"protein_id": "ENSP00000615672.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 260,
"cds_start": 744,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945613.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "c.732C>T",
"hgvs_p": "p.Leu244Leu",
"transcript": "XM_006717005.5",
"protein_id": "XP_006717068.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 256,
"cds_start": 732,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717005.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCAT7",
"gene_hgnc_id": 48824,
"hgvs_c": "n.1772G>A",
"hgvs_p": null,
"transcript": "ENST00000647389.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000647389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "n.*415C>T",
"hgvs_p": null,
"transcript": "ENST00000682520.1",
"protein_id": "ENSP00000507547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"hgvs_c": "n.*415C>T",
"hgvs_p": null,
"transcript": "ENST00000682520.1",
"protein_id": "ENSP00000507547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682520.1"
}
],
"gene_symbol": "FBP1",
"gene_hgnc_id": 3606,
"dbsnp": "rs774118438",
"frequency_reference_population": 0.0000080548725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000752501,
"gnomad_genomes_af": 0.000013146,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.802,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000507.4",
"gene_symbol": "FBP1",
"hgnc_id": 3606,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647389.1",
"gene_symbol": "PCAT7",
"hgnc_id": 48824,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1772G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Fructose-biphosphatase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Fructose-biphosphatase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}