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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: 18-46334301-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46334301&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "ARK2C",
"hgnc_id": 31696,
"hgvs_c": "c.-126C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001256758.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000299713",
"hgnc_id": null,
"hgvs_c": "n.115+1198G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000765795.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 2345,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 346,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7802,
"cdna_start": 284,
"cds_end": null,
"cds_length": 1041,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_152470.3",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269439.12",
"protein_coding": true,
"protein_id": "NP_689683.2",
"strand": true,
"transcript": "NM_152470.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 346,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7802,
"cdna_start": 284,
"cds_end": null,
"cds_length": 1041,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000269439.12",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152470.3",
"protein_coding": true,
"protein_id": "ENSP00000269439.6",
"strand": true,
"transcript": "ENST00000269439.12",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001256758.1",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.-126C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243687.1",
"strand": true,
"transcript": "NM_001256758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000543885.2",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.-126C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444285.1",
"strand": true,
"transcript": "ENST00000543885.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 314,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 31,
"cds_end": null,
"cds_length": 945,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000956349.1",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626408.1",
"strand": true,
"transcript": "ENST00000956349.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 68,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 78,
"cds_end": null,
"cds_length": 207,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000588679.1",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467609.1",
"strand": true,
"transcript": "ENST00000588679.1",
"transcript_support_level": 6
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 22,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 217,
"cds_end": null,
"cds_length": 69,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000587853.1",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466208.1",
"strand": true,
"transcript": "ENST00000587853.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 22,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 274,
"cds_end": null,
"cds_length": 69,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000590330.1",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466809.1",
"strand": true,
"transcript": "ENST00000590330.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 314,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7706,
"cdna_start": 284,
"cds_end": null,
"cds_length": 945,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011526016.4",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524318.1",
"strand": true,
"transcript": "XM_011526016.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 196,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 284,
"cds_end": null,
"cds_length": 591,
"cds_start": 27,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017025788.3",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.27C>G",
"hgvs_p": "p.Leu9Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881277.1",
"strand": true,
"transcript": "XM_017025788.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001256758.1",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.-126C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243687.1",
"strand": true,
"transcript": "NM_001256758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000543885.2",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.-126C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444285.1",
"strand": true,
"transcript": "ENST00000543885.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000593230.5",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "c.-141+7354C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467730.1",
"strand": true,
"transcript": "ENST00000593230.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000586604.5",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "n.27C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468365.1",
"strand": true,
"transcript": "ENST00000586604.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NR_046357.2",
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"hgvs_c": "n.284C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_046357.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 682,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000765795.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000299713",
"hgvs_c": "n.115+1198G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000765795.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs79121450",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"frequency_reference_population": 0.0014812466,
"gene_hgnc_id": 31696,
"gene_symbol": "ARK2C",
"gnomad_exomes_ac": 1779,
"gnomad_exomes_af": 0.00124272,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_ac": 566,
"gnomad_genomes_af": 0.00373385,
"gnomad_genomes_homalt": 5,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 13,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.349,
"pos": 46334301,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001256758.1"
}
]
}