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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: 12-6570895-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6570895&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6570895,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001273.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5695C>G",
"hgvs_p": "p.Arg1899Gly",
"transcript": "NM_001273.5",
"protein_id": "NP_001264.2",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5695,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544040.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001273.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5695C>G",
"hgvs_p": "p.Arg1899Gly",
"transcript": "ENST00000544040.7",
"protein_id": "ENSP00000440542.2",
"transcript_support_level": 5,
"aa_start": 1899,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5695,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001273.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544040.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5665C>G",
"hgvs_p": "p.Arg1889Gly",
"transcript": "ENST00000357008.7",
"protein_id": "ENSP00000349508.3",
"transcript_support_level": 1,
"aa_start": 1889,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5665,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357008.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.*776C>G",
"hgvs_p": null,
"transcript": "ENST00000644480.2",
"protein_id": "ENSP00000493629.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000644480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.*776C>G",
"hgvs_p": null,
"transcript": "ENST00000644480.2",
"protein_id": "ENSP00000493629.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000644480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.10-4278C>G",
"hgvs_p": null,
"transcript": "ENST00000646322.1",
"protein_id": "ENSP00000494949.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000646322.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5779C>G",
"hgvs_p": "p.Arg1927Gly",
"transcript": "ENST00000645095.1",
"protein_id": "ENSP00000496634.1",
"transcript_support_level": null,
"aa_start": 1927,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5779,
"cds_end": null,
"cds_length": 5823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645095.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5770C>G",
"hgvs_p": "p.Arg1924Gly",
"transcript": "ENST00000544484.6",
"protein_id": "ENSP00000440392.1",
"transcript_support_level": 2,
"aa_start": 1924,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5770,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544484.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5719C>G",
"hgvs_p": "p.Arg1907Gly",
"transcript": "ENST00000642879.1",
"protein_id": "ENSP00000494456.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5719,
"cds_end": null,
"cds_length": 5763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642879.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5704C>G",
"hgvs_p": "p.Arg1902Gly",
"transcript": "ENST00000931052.1",
"protein_id": "ENSP00000601111.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5704,
"cds_end": null,
"cds_length": 5748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931052.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5701C>G",
"hgvs_p": "p.Arg1901Gly",
"transcript": "ENST00000645005.1",
"protein_id": "ENSP00000493471.1",
"transcript_support_level": null,
"aa_start": 1901,
"aa_end": null,
"aa_length": 1914,
"cds_start": 5701,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645005.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5698C>G",
"hgvs_p": "p.Arg1900Gly",
"transcript": "ENST00000931051.1",
"protein_id": "ENSP00000601110.1",
"transcript_support_level": null,
"aa_start": 1900,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5698,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931051.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5683C>G",
"hgvs_p": "p.Arg1895Gly",
"transcript": "ENST00000931042.1",
"protein_id": "ENSP00000601101.1",
"transcript_support_level": null,
"aa_start": 1895,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5683,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931042.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5680C>G",
"hgvs_p": "p.Arg1894Gly",
"transcript": "ENST00000931045.1",
"protein_id": "ENSP00000601104.1",
"transcript_support_level": null,
"aa_start": 1894,
"aa_end": null,
"aa_length": 1907,
"cds_start": 5680,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931045.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5674C>G",
"hgvs_p": "p.Arg1892Gly",
"transcript": "NM_001297553.2",
"protein_id": "NP_001284482.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5674,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297553.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5674C>G",
"hgvs_p": "p.Arg1892Gly",
"transcript": "ENST00000645022.1",
"protein_id": "ENSP00000496163.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5674,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645022.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5674C>G",
"hgvs_p": "p.Arg1892Gly",
"transcript": "ENST00000957180.1",
"protein_id": "ENSP00000627239.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5674,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957180.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5671C>G",
"hgvs_p": "p.Arg1891Gly",
"transcript": "ENST00000931049.1",
"protein_id": "ENSP00000601108.1",
"transcript_support_level": null,
"aa_start": 1891,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5671,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931049.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5671C>G",
"hgvs_p": "p.Arg1891Gly",
"transcript": "ENST00000957179.1",
"protein_id": "ENSP00000627238.1",
"transcript_support_level": null,
"aa_start": 1891,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5671,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957179.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5668C>G",
"hgvs_p": "p.Arg1890Gly",
"transcript": "ENST00000643335.1",
"protein_id": "ENSP00000496358.1",
"transcript_support_level": null,
"aa_start": 1890,
"aa_end": null,
"aa_length": 1903,
"cds_start": 5668,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643335.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5665C>G",
"hgvs_p": "p.Arg1889Gly",
"transcript": "NM_001363606.2",
"protein_id": "NP_001350535.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5665,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363606.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5662C>G",
"hgvs_p": "p.Arg1888Gly",
"transcript": "ENST00000931048.1",
"protein_id": "ENSP00000601107.1",
"transcript_support_level": null,
"aa_start": 1888,
"aa_end": null,
"aa_length": 1901,
"cds_start": 5662,
"cds_end": null,
"cds_length": 5706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"hgvs_c": "n.*776C>G",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_199066.1",
"gene_symbol": "CHD4-AS1",
"hgnc_id": 58242,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.458+1365G>C",
"hgvs_p": null
}
],
"clinvar_disease": "CHD4-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "CHD4-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}