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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: 9-130904153-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130904153&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 130904153,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032843.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "NM_032843.5",
"protein_id": "NP_116232.3",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372338.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032843.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000372338.9",
"protein_id": "ENSP00000361413.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032843.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372338.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "NM_001145106.2",
"protein_id": "NP_001138578.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145106.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000448616.5",
"protein_id": "ENSP00000414501.1",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448616.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000872083.1",
"protein_id": "ENSP00000542142.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872083.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000872084.1",
"protein_id": "ENSP00000542143.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872084.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000933855.1",
"protein_id": "ENSP00000603914.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933855.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "ENST00000933857.1",
"protein_id": "ENSP00000603916.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933857.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"transcript": "ENST00000372337.6",
"protein_id": "ENSP00000361412.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 303,
"cds_start": 823,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372337.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Asp273Asn",
"transcript": "ENST00000933856.1",
"protein_id": "ENSP00000603915.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 301,
"cds_start": 817,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933856.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn",
"transcript": "XM_047423989.1",
"protein_id": "XP_047279945.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423989.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"transcript": "XM_047423990.1",
"protein_id": "XP_047279946.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 303,
"cds_start": 823,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"hgvs_c": "c.806-81G>A",
"hgvs_p": null,
"transcript": "ENST00000444139.5",
"protein_id": "ENSP00000395319.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444139.5"
}
],
"gene_symbol": "FIBCD1",
"gene_hgnc_id": 25922,
"dbsnp": "rs147030133",
"frequency_reference_population": 0.000065072694,
"hom_count_reference_population": 1,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000444817,
"gnomad_genomes_af": 0.000262633,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 40,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3963228762149811,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.397,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4168,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.823,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_032843.5",
"gene_symbol": "FIBCD1",
"hgnc_id": 25922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Asp433Asn"
}
],
"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
}