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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: 6-121446911-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=121446911&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GJA1",
"hgnc_id": 4274,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"inheritance_mode": "AR,AD,Unknown,SD",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000165.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9979,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal recessive,Oculodentodigital dysplasia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9946455955505371,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 267,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000165.5",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000282561.4",
"protein_coding": true,
"protein_id": "NP_000156.1",
"strand": true,
"transcript": "NM_000165.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 267,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000282561.4",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000165.5",
"protein_coding": true,
"protein_id": "ENSP00000282561.3",
"strand": true,
"transcript": "ENST00000282561.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000647564.1",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497565.1",
"strand": true,
"transcript": "ENST00000647564.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 146,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000649003.1",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497283.1",
"strand": true,
"transcript": "ENST00000649003.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 114,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000650427.1",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497367.1",
"strand": true,
"transcript": "ENST00000650427.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000898933.1",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568992.1",
"strand": true,
"transcript": "ENST00000898933.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000912060.1",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582119.1",
"strand": true,
"transcript": "ENST00000912060.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "G",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 186,
"cds_end": null,
"cds_length": 1149,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000912061.1",
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Gly22Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582120.1",
"strand": true,
"transcript": "ENST00000912061.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1773898234",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4274,
"gene_symbol": "GJA1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Oculodentodigital dysplasia, autosomal recessive",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 121446911,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.97,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000165.5"
}
]
}