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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: 9-94603412-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94603412&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 94603412,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000507.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "NM_000507.4",
"protein_id": "NP_000498.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000375326.9",
"protein_id": "ENSP00000364475.5",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1154T>C",
"hgvs_p": "p.Leu385Pro",
"transcript": "ENST00000884868.1",
"protein_id": "ENSP00000554927.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 394,
"cds_start": 1154,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1154T>C",
"hgvs_p": "p.Leu385Pro",
"transcript": "ENST00000945615.1",
"protein_id": "ENSP00000615674.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 394,
"cds_start": 1154,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1034T>C",
"hgvs_p": "p.Leu345Pro",
"transcript": "ENST00000945614.1",
"protein_id": "ENSP00000615673.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 354,
"cds_start": 1034,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "NM_001127628.2",
"protein_id": "NP_001121100.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000415431.5",
"protein_id": "ENSP00000408025.1",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000884867.1",
"protein_id": "ENSP00000554926.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000884869.1",
"protein_id": "ENSP00000554928.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000884870.1",
"protein_id": "ENSP00000554929.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "ENST00000884871.1",
"protein_id": "ENSP00000554930.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 986,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.893T>C",
"hgvs_p": "p.Leu298Pro",
"transcript": "ENST00000945611.1",
"protein_id": "ENSP00000615670.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 307,
"cds_start": 893,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.848T>C",
"hgvs_p": "p.Leu283Pro",
"transcript": "ENST00000933250.1",
"protein_id": "ENSP00000603309.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 292,
"cds_start": 848,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.845T>C",
"hgvs_p": "p.Leu282Pro",
"transcript": "ENST00000945612.1",
"protein_id": "ENSP00000615671.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 291,
"cds_start": 845,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.791T>C",
"hgvs_p": "p.Leu264Pro",
"transcript": "ENST00000648117.1",
"protein_id": "ENSP00000498145.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 273,
"cds_start": 791,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.752T>C",
"hgvs_p": "p.Leu251Pro",
"transcript": "ENST00000945613.1",
"protein_id": "ENSP00000615672.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 260,
"cds_start": 752,
"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": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.740T>C",
"hgvs_p": "p.Leu247Pro",
"transcript": "XM_006717005.5",
"protein_id": "XP_006717068.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 256,
"cds_start": 740,
"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.1764A>G",
"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.*423T>C",
"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.*423T>C",
"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": "rs1248299502",
"frequency_reference_population": 0.000002478407,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205233,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8373227119445801,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.619,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9397,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.114,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000507.4",
"gene_symbol": "FBP1",
"hgnc_id": 3606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Leu329Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647389.1",
"gene_symbol": "PCAT7",
"hgnc_id": 48824,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1764A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Fructose-biphosphatase deficiency",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Fructose-biphosphatase deficiency",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}