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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: 14-24306043-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24306043&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24306043,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014430.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001393339.1",
"protein_id": "NP_001380268.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000554411.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393339.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000554411.6",
"protein_id": "ENSP00000451089.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393339.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554411.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000258807.5",
"protein_id": "ENSP00000258807.5",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258807.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP9",
"gene_hgnc_id": 19826,
"hgvs_c": "c.*948C>G",
"hgvs_p": null,
"transcript": "NM_174913.3",
"protein_id": "NP_777573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267425.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174913.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP9",
"gene_hgnc_id": 19826,
"hgvs_c": "c.*948C>G",
"hgvs_p": null,
"transcript": "ENST00000267425.8",
"protein_id": "ENSP00000267425.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174913.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267425.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.443G>C",
"hgvs_p": "p.Arg148Pro",
"transcript": "ENST00000885649.1",
"protein_id": "ENSP00000555708.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 223,
"cds_start": 443,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885649.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.443G>C",
"hgvs_p": "p.Arg148Pro",
"transcript": "ENST00000967605.1",
"protein_id": "ENSP00000637664.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 223,
"cds_start": 443,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967605.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001318807.3",
"protein_id": "NP_001305736.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318807.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001393334.1",
"protein_id": "NP_001380263.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393334.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001393335.1",
"protein_id": "NP_001380264.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393335.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001393336.1",
"protein_id": "NP_001380265.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393336.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001393337.1",
"protein_id": "NP_001380266.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393337.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_001393338.1",
"protein_id": "NP_001380267.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393338.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "NM_014430.4",
"protein_id": "NP_055245.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014430.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000336557.9",
"protein_id": "ENSP00000337731.5",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336557.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885634.1",
"protein_id": "ENSP00000555693.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885634.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885635.1",
"protein_id": "ENSP00000555694.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885635.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885636.1",
"protein_id": "ENSP00000555695.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885636.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885637.1",
"protein_id": "ENSP00000555696.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885637.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885638.1",
"protein_id": "ENSP00000555697.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885638.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885639.1",
"protein_id": "ENSP00000555698.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885639.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000885640.1",
"protein_id": "ENSP00000555699.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 219,
"cds_start": 431,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885640.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
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"inheritance_mode": "AR",
"hgvs_c": "c.*948C>G",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527924.6",
"gene_symbol": "LTB4R2",
"hgnc_id": 19260,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-96+176C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}