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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: 2-74474752-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74474752&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74474752,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365575.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"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.2047A>T",
"hgvs_p": "p.Ser683Cys",
"transcript": "NM_001365575.2",
"protein_id": "NP_001352504.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 750,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "ENST00000393965.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365575.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2047A>T",
"hgvs_p": "p.Ser683Cys",
"transcript": "ENST00000393965.8",
"protein_id": "ENSP00000377537.3",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 750,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "NM_001365575.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393965.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2089A>T",
"hgvs_p": "p.Ser697Cys",
"transcript": "ENST00000904898.1",
"protein_id": "ENSP00000574957.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 764,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904898.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2068A>T",
"hgvs_p": "p.Ser690Cys",
"transcript": "ENST00000969128.1",
"protein_id": "ENSP00000639187.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 757,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969128.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2047A>T",
"hgvs_p": "p.Ser683Cys",
"transcript": "ENST00000715459.1",
"protein_id": "ENSP00000520452.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 750,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715459.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2026A>T",
"hgvs_p": "p.Ser676Cys",
"transcript": "NM_032779.4",
"protein_id": "NP_116168.3",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 743,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032779.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2026A>T",
"hgvs_p": "p.Ser676Cys",
"transcript": "ENST00000290418.4",
"protein_id": "ENSP00000290418.4",
"transcript_support_level": 2,
"aa_start": 676,
"aa_end": null,
"aa_length": 743,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290418.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2017A>T",
"hgvs_p": "p.Ser673Cys",
"transcript": "ENST00000904899.1",
"protein_id": "ENSP00000574958.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 740,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904899.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.2002A>T",
"hgvs_p": "p.Ser668Cys",
"transcript": "ENST00000904900.1",
"protein_id": "ENSP00000574959.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 735,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904900.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.1960A>T",
"hgvs_p": "p.Ser654Cys",
"transcript": "ENST00000904896.1",
"protein_id": "ENSP00000574955.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 721,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904896.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.1939A>T",
"hgvs_p": "p.Ser647Cys",
"transcript": "ENST00000904897.1",
"protein_id": "ENSP00000574956.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 714,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904897.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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.1810A>T",
"hgvs_p": "p.Ser604Cys",
"transcript": "ENST00000969127.1",
"protein_id": "ENSP00000639186.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 671,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 2756,
"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.617A>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": 810,
"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+164A>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": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454193.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"hgvs_c": "n.*161A>T",
"hgvs_p": null,
"transcript": "ENST00000486335.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486335.1"
}
],
"gene_symbol": "CCDC142",
"gene_hgnc_id": 25889,
"dbsnp": "rs1356984577",
"frequency_reference_population": 0.000006571684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3620851933956146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.1618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.125,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365575.2",
"gene_symbol": "CCDC142",
"hgnc_id": 25889,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2047A>T",
"hgvs_p": "p.Ser683Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}