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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: 5-180616464-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180616464&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180616464,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000261937.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro",
"transcript": "NM_182925.5",
"protein_id": "NP_891555.2",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3122,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "ENST00000261937.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro",
"transcript": "ENST00000261937.11",
"protein_id": "ENSP00000261937.6",
"transcript_support_level": 1,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3122,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "NM_182925.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro",
"transcript": "ENST00000502649.5",
"protein_id": "ENSP00000426057.1",
"transcript_support_level": 1,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro",
"transcript": "ENST00000393347.7",
"protein_id": "ENSP00000377016.3",
"transcript_support_level": 1,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro",
"transcript": "NM_001354989.2",
"protein_id": "NP_001341918.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro",
"transcript": "NM_002020.5",
"protein_id": "NP_002011.2",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.236G>C",
"hgvs_p": "p.Arg79Pro",
"transcript": "ENST00000512795.1",
"protein_id": "ENSP00000421535.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 141,
"cds_start": 236,
"cds_end": null,
"cds_length": 427,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3353G>C",
"hgvs_p": "p.Arg1118Pro",
"transcript": "XM_011534478.4",
"protein_id": "XP_011532780.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3353G>C",
"hgvs_p": "p.Arg1118Pro",
"transcript": "XM_017009263.2",
"protein_id": "XP_016864752.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3977,
"cdna_end": null,
"cdna_length": 6706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3353G>C",
"hgvs_p": "p.Arg1118Pro",
"transcript": "XM_017009266.2",
"protein_id": "XP_016864755.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3353,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 3589,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3044G>C",
"hgvs_p": "p.Arg1015Pro",
"transcript": "XM_017009268.2",
"protein_id": "XP_016864757.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3044,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3218G>C",
"hgvs_p": "p.Arg1073Pro",
"transcript": "XM_047417002.1",
"protein_id": "XP_047272958.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3353G>C",
"hgvs_p": "p.Arg1118Pro",
"transcript": "XM_047417003.1",
"protein_id": "XP_047272959.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 4287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.2663G>C",
"hgvs_p": "p.Arg888Pro",
"transcript": "XM_011534484.3",
"protein_id": "XP_011532786.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2663,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 5415,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.2515G>C",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.489G>C",
"hgvs_p": null,
"transcript": "ENST00000514810.1",
"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": 690,
"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": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.*2065G>C",
"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": "rs121909650",
"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": 0.991523265838623,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.908,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.864,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000261937.11",
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3122G>C",
"hgvs_p": "p.Arg1041Pro"
}
],
"clinvar_disease": "FLT4-related disorder,Hereditary lymphedema type I,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hereditary lymphedema type I|not provided|FLT4-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}