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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: 4-186595726-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186595726&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186595726,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000441802.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.13101T>C",
"hgvs_p": "p.Ser4367Ser",
"transcript": "NM_005245.4",
"protein_id": "NP_005236.2",
"transcript_support_level": null,
"aa_start": 4367,
"aa_end": null,
"aa_length": 4588,
"cds_start": 13101,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 13312,
"cdna_end": null,
"cdna_length": 14776,
"mane_select": "ENST00000441802.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.13101T>C",
"hgvs_p": "p.Ser4367Ser",
"transcript": "ENST00000441802.7",
"protein_id": "ENSP00000406229.2",
"transcript_support_level": 5,
"aa_start": 4367,
"aa_end": null,
"aa_length": 4588,
"cds_start": 13101,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 13312,
"cdna_end": null,
"cdna_length": 14776,
"mane_select": "NM_005245.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.75T>C",
"hgvs_p": "p.Ser25Ser",
"transcript": "ENST00000509927.1",
"protein_id": "ENSP00000420869.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 118,
"cds_start": 75,
"cds_end": null,
"cds_length": 357,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.13101T>C",
"hgvs_p": "p.Ser4367Ser",
"transcript": "NM_001440456.1",
"protein_id": "NP_001427385.1",
"transcript_support_level": null,
"aa_start": 4367,
"aa_end": null,
"aa_length": 4600,
"cds_start": 13101,
"cds_end": null,
"cds_length": 13803,
"cdna_start": 13462,
"cdna_end": null,
"cdna_length": 14962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.13101T>C",
"hgvs_p": "p.Ser4367Ser",
"transcript": "NM_001440457.1",
"protein_id": "NP_001427386.1",
"transcript_support_level": null,
"aa_start": 4367,
"aa_end": null,
"aa_length": 4600,
"cds_start": 13101,
"cds_end": null,
"cds_length": 13803,
"cdna_start": 13312,
"cdna_end": null,
"cdna_length": 14812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.13101T>C",
"hgvs_p": "p.Ser4367Ser",
"transcript": "NM_001440455.1",
"protein_id": "NP_001427384.1",
"transcript_support_level": null,
"aa_start": 4367,
"aa_end": null,
"aa_length": 4588,
"cds_start": 13101,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 13462,
"cdna_end": null,
"cdna_length": 14926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.402T>C",
"hgvs_p": "p.Ser134Ser",
"transcript": "ENST00000512772.5",
"protein_id": "ENSP00000424157.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 367,
"cds_start": 402,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.402T>C",
"hgvs_p": "p.Ser134Ser",
"transcript": "ENST00000507105.1",
"protein_id": "ENSP00000423801.1",
"transcript_support_level": 3,
"aa_start": 134,
"aa_end": null,
"aa_length": 283,
"cds_start": 402,
"cds_end": null,
"cds_length": 853,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 854,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "n.793T>C",
"hgvs_p": null,
"transcript": "ENST00000500085.2",
"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": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"hgvs_c": "c.-29T>C",
"hgvs_p": null,
"transcript": "ENST00000509537.1",
"protein_id": "ENSP00000421003.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": -4,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAT1",
"gene_hgnc_id": 3595,
"dbsnp": "rs1298865",
"frequency_reference_population": 0.38632357,
"hom_count_reference_population": 128044,
"allele_count_reference_population": 623313,
"gnomad_exomes_af": 0.377248,
"gnomad_genomes_af": 0.473559,
"gnomad_exomes_ac": 551315,
"gnomad_genomes_ac": 71998,
"gnomad_exomes_homalt": 109506,
"gnomad_genomes_homalt": 18538,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12099999934434891,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.424,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000441802.7",
"gene_symbol": "FAT1",
"hgnc_id": 3595,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13101T>C",
"hgvs_p": "p.Ser4367Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}