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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: 6-121447605-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=121447605&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 121447605,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000165.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "NM_000165.5",
"protein_id": "NP_000156.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282561.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000165.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000282561.4",
"protein_id": "ENSP00000282561.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000165.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282561.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000647564.1",
"protein_id": "ENSP00000497565.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647564.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000649003.1",
"protein_id": "ENSP00000497283.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649003.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000650427.1",
"protein_id": "ENSP00000497367.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650427.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000898933.1",
"protein_id": "ENSP00000568992.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898933.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000912060.1",
"protein_id": "ENSP00000582119.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912060.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"transcript": "ENST00000912061.1",
"protein_id": "ENSP00000582120.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 382,
"cds_start": 758,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912061.1"
}
],
"gene_symbol": "GJA1",
"gene_hgnc_id": 4274,
"dbsnp": "rs17653265",
"frequency_reference_population": 0.013187594,
"hom_count_reference_population": 209,
"allele_count_reference_population": 21279,
"gnomad_exomes_af": 0.0136101,
"gnomad_genomes_af": 0.00911834,
"gnomad_exomes_ac": 19895,
"gnomad_genomes_ac": 1384,
"gnomad_exomes_homalt": 199,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004578202962875366,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.784,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000165.5",
"gene_symbol": "GJA1",
"hgnc_id": 4274,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR,SD",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val"
}
],
"clinvar_disease": " autosomal recessive,Oculodentodigital dysplasia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|Oculodentodigital dysplasia, autosomal recessive|Oculodentodigital dysplasia|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}