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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: 1-244835732-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244835732&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244835732,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001312872.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "NM_198076.6",
"protein_id": "NP_932342.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 118,
"cds_start": 18,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000411948.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198076.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000411948.7",
"protein_id": "ENSP00000406327.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 118,
"cds_start": 18,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198076.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411948.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "n.77G>A",
"hgvs_p": null,
"transcript": "ENST00000391839.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000391839.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "NM_001312872.1",
"protein_id": "NP_001299801.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 130,
"cds_start": 18,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312872.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000366528.3",
"protein_id": "ENSP00000355486.3",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 130,
"cds_start": 18,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366528.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "NM_001312871.1",
"protein_id": "NP_001299800.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 118,
"cds_start": 18,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312871.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000925250.1",
"protein_id": "ENSP00000595309.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 118,
"cds_start": 18,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925250.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000925251.1",
"protein_id": "ENSP00000595310.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 118,
"cds_start": 18,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925251.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000925253.1",
"protein_id": "ENSP00000595312.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 116,
"cds_start": 18,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925253.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000925252.1",
"protein_id": "ENSP00000595311.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 115,
"cds_start": 18,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925252.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000925254.1",
"protein_id": "ENSP00000595313.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 114,
"cds_start": 18,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925254.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "NM_001312873.1",
"protein_id": "NP_001299802.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 73,
"cds_start": 18,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312873.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "ENST00000873395.1",
"protein_id": "ENSP00000543454.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 73,
"cds_start": 18,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873395.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu",
"transcript": "NM_001312874.1",
"protein_id": "NP_001299803.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 61,
"cds_start": 18,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "n.74G>A",
"hgvs_p": null,
"transcript": "ENST00000498262.1",
"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": "ENST00000498262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "n.257G>A",
"hgvs_p": null,
"transcript": "NR_132419.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_132419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "n.257G>A",
"hgvs_p": null,
"transcript": "NR_132420.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_132420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"hgvs_c": "n.257G>A",
"hgvs_p": null,
"transcript": "NR_132421.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_132421.1"
}
],
"gene_symbol": "COX20",
"gene_hgnc_id": 26970,
"dbsnp": "rs768432039",
"frequency_reference_population": 0.0000094345705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000892924,
"gnomad_genomes_af": 0.0000131577,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.215,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001312872.1",
"gene_symbol": "COX20",
"hgnc_id": 26970,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Glu6Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}