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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: 21-41357145-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41357145&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41357145,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_058186.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Gly219Ala",
"transcript": "NM_058186.4",
"protein_id": "NP_478066.3",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 235,
"cds_start": 656,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357985.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058186.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Gly219Ala",
"transcript": "ENST00000357985.7",
"protein_id": "ENSP00000350673.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 235,
"cds_start": 656,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058186.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357985.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.773G>C",
"hgvs_p": "p.Gly258Ala",
"transcript": "ENST00000398652.7",
"protein_id": "ENSP00000381646.3",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 274,
"cds_start": 773,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398652.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.512G>C",
"hgvs_p": "p.Gly171Ala",
"transcript": "ENST00000398647.7",
"protein_id": "ENSP00000381642.3",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 187,
"cds_start": 512,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398647.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Gly242Ala",
"transcript": "ENST00000398646.3",
"protein_id": "ENSP00000381641.3",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 258,
"cds_start": 725,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398646.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.653G>C",
"hgvs_p": "p.Gly218Ala",
"transcript": "ENST00000953958.1",
"protein_id": "ENSP00000624017.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 234,
"cds_start": 653,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953958.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.512G>C",
"hgvs_p": "p.Gly171Ala",
"transcript": "NM_206964.2",
"protein_id": "NP_996847.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 187,
"cds_start": 512,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206964.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.698G>C",
"hgvs_p": "p.Gly233Ala",
"transcript": "XM_011529649.3",
"protein_id": "XP_011527951.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 249,
"cds_start": 698,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529649.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Gly219Ala",
"transcript": "XM_011529648.3",
"protein_id": "XP_011527950.3",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 235,
"cds_start": 656,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529648.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"hgvs_c": "n.2456G>C",
"hgvs_p": null,
"transcript": "ENST00000479810.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479810.6"
}
],
"gene_symbol": "FAM3B",
"gene_hgnc_id": 1253,
"dbsnp": "rs141735671",
"frequency_reference_population": 6.845124e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84512e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.753158688545227,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.465,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4599,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.473,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_058186.4",
"gene_symbol": "FAM3B",
"hgnc_id": 1253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.656G>C",
"hgvs_p": "p.Gly219Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}