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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: 2-74474658-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74474658&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74474658,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365575.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2141C>T",
"hgvs_p": "p.Pro714Leu",
"transcript": "NM_001365575.2",
"protein_id": "NP_001352504.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 750,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393965.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365575.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2141C>T",
"hgvs_p": "p.Pro714Leu",
"transcript": "ENST00000393965.8",
"protein_id": "ENSP00000377537.3",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 750,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365575.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393965.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2183C>T",
"hgvs_p": "p.Pro728Leu",
"transcript": "ENST00000904898.1",
"protein_id": "ENSP00000574957.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 764,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904898.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Pro721Leu",
"transcript": "ENST00000969128.1",
"protein_id": "ENSP00000639187.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 757,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969128.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2141C>T",
"hgvs_p": "p.Pro714Leu",
"transcript": "ENST00000715459.1",
"protein_id": "ENSP00000520452.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 750,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715459.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2120C>T",
"hgvs_p": "p.Pro707Leu",
"transcript": "NM_032779.4",
"protein_id": "NP_116168.3",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 743,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032779.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2120C>T",
"hgvs_p": "p.Pro707Leu",
"transcript": "ENST00000290418.4",
"protein_id": "ENSP00000290418.4",
"transcript_support_level": 2,
"aa_start": 707,
"aa_end": null,
"aa_length": 743,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290418.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Pro704Leu",
"transcript": "ENST00000904899.1",
"protein_id": "ENSP00000574958.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 740,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904899.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Pro699Leu",
"transcript": "ENST00000904900.1",
"protein_id": "ENSP00000574959.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 735,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904900.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2054C>T",
"hgvs_p": "p.Pro685Leu",
"transcript": "ENST00000904896.1",
"protein_id": "ENSP00000574955.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 721,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904896.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Pro678Leu",
"transcript": "ENST00000904897.1",
"protein_id": "ENSP00000574956.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 714,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904897.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Pro635Leu",
"transcript": "ENST00000969127.1",
"protein_id": "ENSP00000639186.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 671,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "n.711C>T",
"hgvs_p": null,
"transcript": "ENST00000473278.1",
"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": "retained_intron",
"feature": "ENST00000473278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "n.1699+258C>T",
"hgvs_p": null,
"transcript": "ENST00000454193.5",
"protein_id": "ENSP00000415532.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000454193.5"
}
],
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"dbsnp": "rs141112247",
"frequency_reference_population": 0.000023541335,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000171012,
"gnomad_genomes_af": 0.0000853578,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06411808729171753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0877,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.037,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001365575.2",
"gene_symbol": "CCDC142",
"hgnc_id": 25889,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2141C>T",
"hgvs_p": "p.Pro714Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}