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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: 5-180628936-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180628936&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180628936,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261937.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val",
"transcript": "NM_182925.5",
"protein_id": "NP_891555.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1363,
"cds_start": 1049,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "ENST00000261937.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val",
"transcript": "ENST00000261937.11",
"protein_id": "ENSP00000261937.6",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 1363,
"cds_start": 1049,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "NM_182925.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val",
"transcript": "ENST00000502649.5",
"protein_id": "ENSP00000426057.1",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1049,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val",
"transcript": "ENST00000393347.7",
"protein_id": "ENSP00000377016.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1049,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4292,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.1049A>T",
"hgvs_p": null,
"transcript": "ENST00000424276.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2298,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.880A>T",
"hgvs_p": null,
"transcript": "ENST00000502293.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val",
"transcript": "NM_001354989.2",
"protein_id": "NP_001341918.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1049,
"cds_end": null,
"cds_length": 3921,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val",
"transcript": "NM_002020.5",
"protein_id": "NP_002011.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1049,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.880A>T",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000619105.4",
"protein_id": "ENSP00000481134.1",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 295,
"cds_start": 880,
"cds_end": null,
"cds_length": 888,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1280A>T",
"hgvs_p": "p.Glu427Val",
"transcript": "XM_011534478.4",
"protein_id": "XP_011532780.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1440,
"cds_start": 1280,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1280A>T",
"hgvs_p": "p.Glu427Val",
"transcript": "XM_017009263.2",
"protein_id": "XP_016864752.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1385,
"cds_start": 1280,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 6706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1280A>T",
"hgvs_p": "p.Glu427Val",
"transcript": "XM_017009266.2",
"protein_id": "XP_016864755.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1375,
"cds_start": 1280,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.971A>T",
"hgvs_p": "p.Glu324Val",
"transcript": "XM_017009268.2",
"protein_id": "XP_016864757.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 1337,
"cds_start": 971,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.Glu382Val",
"transcript": "XM_047417002.1",
"protein_id": "XP_047272958.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 1330,
"cds_start": 1145,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.1280A>T",
"hgvs_p": "p.Glu427Val",
"transcript": "XM_047417003.1",
"protein_id": "XP_047272959.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1297,
"cds_start": 1280,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 4287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Glu197Val",
"transcript": "XM_011534484.3",
"protein_id": "XP_011532786.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1210,
"cds_start": 590,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 686,
"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": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.144A>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
}
],
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"dbsnp": "rs111916034",
"frequency_reference_population": 0.0007664099,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1236,
"gnomad_exomes_af": 0.000421096,
"gnomad_genomes_af": 0.00407914,
"gnomad_exomes_ac": 615,
"gnomad_genomes_ac": 621,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010187268257141113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.1872,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.629,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261937.11",
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1049A>T",
"hgvs_p": "p.Glu350Val"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}