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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: 8-43059115-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=43059115&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 43059115,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002027.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Ile75Thr",
"transcript": "NM_002027.3",
"protein_id": "NP_002018.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 379,
"cds_start": 224,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": "ENST00000302279.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002027.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Ile75Thr",
"transcript": "ENST00000302279.8",
"protein_id": "ENSP00000303423.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 379,
"cds_start": 224,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": "NM_002027.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302279.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.-230T>C",
"hgvs_p": null,
"transcript": "ENST00000529687.5",
"protein_id": "ENSP00000473479.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529687.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254673",
"gene_hgnc_id": null,
"hgvs_c": "n.94T>C",
"hgvs_p": null,
"transcript": "ENST00000534420.1",
"protein_id": "ENSP00000435061.2",
"transcript_support_level": 4,
"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": 623,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.200+2569T>C",
"hgvs_p": null,
"transcript": "ENST00000526755.5",
"protein_id": "ENSP00000437208.1",
"transcript_support_level": 1,
"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": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526755.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Ile75Thr",
"transcript": "ENST00000903292.1",
"protein_id": "ENSP00000573351.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 358,
"cds_start": 224,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903292.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Ile75Thr",
"transcript": "ENST00000903293.1",
"protein_id": "ENSP00000573352.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 344,
"cds_start": 224,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903293.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Ile75Thr",
"transcript": "ENST00000903295.1",
"protein_id": "ENSP00000573354.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 266,
"cds_start": 224,
"cds_end": null,
"cds_length": 801,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903295.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"transcript": "ENST00000533336.1",
"protein_id": "ENSP00000434430.1",
"transcript_support_level": 3,
"aa_start": 13,
"aa_end": null,
"aa_length": 248,
"cds_start": 38,
"cds_end": null,
"cds_length": 748,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533336.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.170T>C",
"hgvs_p": "p.Ile57Thr",
"transcript": "ENST00000531266.5",
"protein_id": "ENSP00000432411.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 195,
"cds_start": 170,
"cds_end": null,
"cds_length": 590,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531266.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.200+2569T>C",
"hgvs_p": null,
"transcript": "ENST00000903294.1",
"protein_id": "ENSP00000573353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.200+2569T>C",
"hgvs_p": null,
"transcript": "ENST00000903296.1",
"protein_id": "ENSP00000573355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "c.-168+2355T>C",
"hgvs_p": null,
"transcript": "ENST00000525699.5",
"protein_id": "ENSP00000436998.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525699.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.216T>C",
"hgvs_p": null,
"transcript": "ENST00000524546.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000524546.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.243T>C",
"hgvs_p": null,
"transcript": "ENST00000527153.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527153.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.223T>C",
"hgvs_p": null,
"transcript": "ENST00000533559.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 429,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000533559.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.132+2569T>C",
"hgvs_p": null,
"transcript": "ENST00000533368.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 534,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.200+2569T>C",
"hgvs_p": null,
"transcript": "ENST00000533383.5",
"protein_id": "ENSP00000435455.1",
"transcript_support_level": 5,
"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": 982,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533383.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.200+2569T>C",
"hgvs_p": null,
"transcript": "ENST00000533998.5",
"protein_id": "ENSP00000432892.1",
"transcript_support_level": 3,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533998.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"hgvs_c": "n.224+2569T>C",
"hgvs_p": null,
"transcript": "NR_033698.2",
"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": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033698.2"
}
],
"gene_symbol": "FNTA",
"gene_hgnc_id": 3782,
"dbsnp": "rs779020919",
"frequency_reference_population": 0.00009419755,
"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.0000971663,
"gnomad_genomes_af": 0.0000656953,
"gnomad_exomes_ac": 142,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6719700694084167,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.38,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.14,
"phylop100way_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002027.3",
"gene_symbol": "FNTA",
"hgnc_id": 3782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Ile75Thr"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534420.1",
"gene_symbol": "ENSG00000254673",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.94T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}