← 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: 1-93534834-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93534834&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 93534834,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001164473.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "NM_001164473.3",
"protein_id": "NP_001157945.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 605,
"cds_start": 916,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271234.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164473.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "ENST00000271234.13",
"protein_id": "ENSP00000271234.7",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 605,
"cds_start": 916,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164473.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271234.13"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "ENST00000260506.12",
"protein_id": "ENSP00000260506.8",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 551,
"cds_start": 916,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260506.12"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "ENST00000868905.1",
"protein_id": "ENSP00000538964.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 600,
"cds_start": 916,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868905.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.1006A>T",
"hgvs_p": "p.Ser336Cys",
"transcript": "ENST00000933415.1",
"protein_id": "ENSP00000603474.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 577,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933415.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "NM_001024948.3",
"protein_id": "NP_001020119.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 551,
"cds_start": 916,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024948.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "NM_017737.5",
"protein_id": "NP_060207.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 547,
"cds_start": 916,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017737.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "ENST00000370253.6",
"protein_id": "ENSP00000359275.2",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 547,
"cds_start": 916,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370253.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.910A>T",
"hgvs_p": "p.Ser304Cys",
"transcript": "ENST00000933414.1",
"protein_id": "ENSP00000603473.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 545,
"cds_start": 910,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933414.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Ser288Cys",
"transcript": "ENST00000868904.1",
"protein_id": "ENSP00000538963.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 529,
"cds_start": 862,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868904.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "ENST00000868906.1",
"protein_id": "ENSP00000538965.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 527,
"cds_start": 916,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868906.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.787A>T",
"hgvs_p": "p.Ser263Cys",
"transcript": "ENST00000868907.1",
"protein_id": "ENSP00000538966.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 504,
"cds_start": 787,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868907.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys",
"transcript": "ENST00000868903.1",
"protein_id": "ENSP00000538962.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 494,
"cds_start": 916,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868903.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"hgvs_c": "c.451A>T",
"hgvs_p": "p.Ser151Cys",
"transcript": "ENST00000424449.2",
"protein_id": "ENSP00000397451.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 450,
"cds_start": 451,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424449.2"
}
],
"gene_symbol": "FNBP1L",
"gene_hgnc_id": 20851,
"dbsnp": "rs766553618",
"frequency_reference_population": 0.0000035034172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000350342,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04712185263633728,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.167,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001164473.3",
"gene_symbol": "FNBP1L",
"hgnc_id": 20851,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Ser306Cys"
}
],
"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
}