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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: 20-6085082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=6085082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 6085082,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000217289.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Lys",
"transcript": "NM_017671.5",
"protein_id": "NP_060141.3",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 677,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": "ENST00000217289.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Lys",
"transcript": "ENST00000217289.9",
"protein_id": "ENSP00000217289.4",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 677,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": "NM_017671.5",
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.537G>A",
"hgvs_p": null,
"transcript": "ENST00000478194.1",
"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": 3322,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.*1079G>A",
"hgvs_p": null,
"transcript": "ENST00000536936.1",
"protein_id": "ENSP00000441063.2",
"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": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "n.*1079G>A",
"hgvs_p": null,
"transcript": "ENST00000536936.1",
"protein_id": "ENSP00000441063.2",
"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": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Lys",
"transcript": "ENST00000699095.1",
"protein_id": "ENSP00000514127.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 677,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 5096,
"cdna_end": null,
"cdna_length": 7271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Lys",
"transcript": "XM_024451935.2",
"protein_id": "XP_024307703.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 677,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Lys",
"transcript": "XM_047440259.1",
"protein_id": "XP_047296215.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 677,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431Lys",
"transcript": "XM_047440260.1",
"protein_id": "XP_047296216.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 582,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FERMT1",
"gene_hgnc_id": 15889,
"dbsnp": "rs2232074",
"frequency_reference_population": 0.38536277,
"hom_count_reference_population": 123094,
"allele_count_reference_population": 621063,
"gnomad_exomes_af": 0.382581,
"gnomad_genomes_af": 0.412144,
"gnomad_exomes_ac": 558558,
"gnomad_genomes_ac": 62505,
"gnomad_exomes_homalt": 109835,
"gnomad_genomes_homalt": 13259,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000215422005567234,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.0612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.212,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000217289.9",
"gene_symbol": "FERMT1",
"hgnc_id": 15889,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Lys"
}
],
"clinvar_disease": "Kindler syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Kindler syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}