← Back to variant description
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: 5-180621747-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180621747&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_182925.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 4092,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_182925.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261937.11",
"protein_coding": true,
"protein_id": "NP_891555.2",
"strand": false,
"transcript": "NM_182925.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 4092,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000261937.11",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182925.5",
"protein_coding": true,
"protein_id": "ENSP00000261937.6",
"strand": false,
"transcript": "ENST00000261937.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 3921,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000502649.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426057.1",
"strand": false,
"transcript": "ENST00000502649.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 3897,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393347.7",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377016.3",
"strand": false,
"transcript": "ENST00000393347.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000424276.6",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "n.1815G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000424276.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 4368,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955857.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625916.1",
"strand": false,
"transcript": "ENST00000955857.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1385,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5925,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 4158,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000861588.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531647.1",
"strand": false,
"transcript": "ENST00000861588.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "P",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5531,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 4146,
"cds_start": 1869,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955858.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1869G>A",
"hgvs_p": "p.Pro623Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625917.1",
"strand": false,
"transcript": "ENST00000955858.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "P",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5874,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 4110,
"cds_start": 1833,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937381.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Pro611Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607440.1",
"strand": false,
"transcript": "ENST00000937381.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 3921,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001354989.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341918.1",
"strand": false,
"transcript": "NM_001354989.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "P",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 3897,
"cds_start": 1815,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002020.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002011.2",
"strand": false,
"transcript": "NM_002020.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "P",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6244,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 4323,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011534478.4",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.2046G>A",
"hgvs_p": "p.Pro682Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532780.1",
"strand": false,
"transcript": "XM_011534478.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1385,
"aa_ref": "P",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6706,
"cdna_start": 2670,
"cds_end": null,
"cds_length": 4158,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017009263.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.2046G>A",
"hgvs_p": "p.Pro682Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864752.1",
"strand": false,
"transcript": "XM_017009263.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "P",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4896,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 4128,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017009266.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.2046G>A",
"hgvs_p": "p.Pro682Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864755.1",
"strand": false,
"transcript": "XM_017009266.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "P",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 4014,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017009268.2",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Pro579Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864757.1",
"strand": false,
"transcript": "XM_017009268.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "P",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 3993,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047417002.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Pro637Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272958.1",
"strand": false,
"transcript": "XM_047417002.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1297,
"aa_ref": "P",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4287,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 3894,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047417003.1",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.2046G>A",
"hgvs_p": "p.Pro682Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272959.1",
"strand": false,
"transcript": "XM_047417003.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5415,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011534484.3",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Pro452Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532786.1",
"strand": false,
"transcript": "XM_011534484.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": null,
"cds_end": null,
"cds_length": 888,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000619105.4",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "c.*758G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481134.1",
"strand": false,
"transcript": "ENST00000619105.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000507059.5",
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"hgvs_c": "n.910G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000507059.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368166608",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000022317361,
"gene_hgnc_id": 3767,
"gene_symbol": "FLT4",
"gnomad_exomes_ac": 24,
"gnomad_exomes_af": 0.0000164296,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 12,
"gnomad_genomes_af": 0.0000787836,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.469,
"pos": 180621747,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_182925.5"
}
]
}