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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: 1-1471931-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1471931&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1471931,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000673477.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "NM_031921.6",
"protein_id": "NP_114127.3",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 648,
"cds_start": 47,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": "ENST00000673477.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000673477.1",
"protein_id": "ENSP00000500094.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 648,
"cds_start": 47,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": "NM_031921.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000308647.8",
"protein_id": "ENSP00000311766.8",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 297,
"cds_start": 47,
"cds_end": null,
"cds_length": 894,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_011542244.2",
"protein_id": "XP_011540546.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 696,
"cds_start": 47,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_005244806.4",
"protein_id": "XP_005244863.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 586,
"cds_start": 47,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_011542241.4",
"protein_id": "XP_011540543.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 483,
"cds_start": 47,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_047431583.1",
"protein_id": "XP_047287539.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 483,
"cds_start": 47,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_047431588.1",
"protein_id": "XP_047287544.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 483,
"cds_start": 47,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_047431596.1",
"protein_id": "XP_047287552.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 476,
"cds_start": 47,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_047431599.1",
"protein_id": "XP_047287555.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 407,
"cds_start": 47,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATAD3B",
"gene_hgnc_id": 24007,
"dbsnp": "rs948002957",
"frequency_reference_population": 0.000019865181,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000198652,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10957574844360352,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0785,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.546,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673477.1",
"gene_symbol": "ATAD3B",
"hgnc_id": 24007,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}