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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: 5-180612606-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180612606&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180612606,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261937.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu",
"transcript": "NM_182925.5",
"protein_id": "NP_891555.2",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3437,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "ENST00000261937.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu",
"transcript": "ENST00000261937.11",
"protein_id": "ENSP00000261937.6",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3437,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "NM_182925.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu",
"transcript": "ENST00000502649.5",
"protein_id": "ENSP00000426057.1",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu",
"transcript": "ENST00000393347.7",
"protein_id": "ENSP00000377016.3",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu",
"transcript": "NM_001354989.2",
"protein_id": "NP_001341918.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu",
"transcript": "NM_002020.5",
"protein_id": "NP_002011.2",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3668G>T",
"hgvs_p": "p.Arg1223Leu",
"transcript": "XM_011534478.4",
"protein_id": "XP_011532780.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3668,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3668G>T",
"hgvs_p": "p.Arg1223Leu",
"transcript": "XM_017009263.2",
"protein_id": "XP_016864752.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3668,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 4292,
"cdna_end": null,
"cdna_length": 6706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3668G>T",
"hgvs_p": "p.Arg1223Leu",
"transcript": "XM_017009266.2",
"protein_id": "XP_016864755.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3668,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 3904,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3359G>T",
"hgvs_p": "p.Arg1120Leu",
"transcript": "XM_017009268.2",
"protein_id": "XP_016864757.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3359,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3533G>T",
"hgvs_p": "p.Arg1178Leu",
"transcript": "XM_047417002.1",
"protein_id": "XP_047272958.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.2978G>T",
"hgvs_p": "p.Arg993Leu",
"transcript": "XM_011534484.3",
"protein_id": "XP_011532786.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3693G>T",
"hgvs_p": "p.Pro1231Pro",
"transcript": "XM_047417003.1",
"protein_id": "XP_047272959.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3935,
"cdna_end": null,
"cdna_length": 4287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.3787G>T",
"hgvs_p": null,
"transcript": "ENST00000507059.5",
"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": 5414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.389G>T",
"hgvs_p": null,
"transcript": "ENST00000510000.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.*2380G>T",
"hgvs_p": null,
"transcript": "ENST00000619105.4",
"protein_id": "ENSP00000481134.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"dbsnp": "rs1130379",
"frequency_reference_population": 6.846764e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84676e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.611304759979248,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.33,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.746,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261937.11",
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3437G>T",
"hgvs_p": "p.Arg1146Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}