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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: 12-6570964-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6570964&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6570964,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001273.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.5626G>A",
"hgvs_p": "p.Ala1876Thr",
"transcript": "NM_001273.5",
"protein_id": "NP_001264.2",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5626,
"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": "A",
"aa_alt": "T",
"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.5626G>A",
"hgvs_p": "p.Ala1876Thr",
"transcript": "ENST00000544040.7",
"protein_id": "ENSP00000440542.2",
"transcript_support_level": 5,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5626,
"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": "A",
"aa_alt": "T",
"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.5596G>A",
"hgvs_p": "p.Ala1866Thr",
"transcript": "ENST00000357008.7",
"protein_id": "ENSP00000349508.3",
"transcript_support_level": 1,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5596,
"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.*707G>A",
"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.*707G>A",
"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.10-4347G>A",
"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": "A",
"aa_alt": "T",
"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.5710G>A",
"hgvs_p": "p.Ala1904Thr",
"transcript": "ENST00000645095.1",
"protein_id": "ENSP00000496634.1",
"transcript_support_level": null,
"aa_start": 1904,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5710,
"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": "A",
"aa_alt": "T",
"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.5701G>A",
"hgvs_p": "p.Ala1901Thr",
"transcript": "ENST00000544484.6",
"protein_id": "ENSP00000440392.1",
"transcript_support_level": 2,
"aa_start": 1901,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5701,
"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": "A",
"aa_alt": "T",
"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.5650G>A",
"hgvs_p": "p.Ala1884Thr",
"transcript": "ENST00000642879.1",
"protein_id": "ENSP00000494456.1",
"transcript_support_level": null,
"aa_start": 1884,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5650,
"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": "A",
"aa_alt": "T",
"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.5635G>A",
"hgvs_p": "p.Ala1879Thr",
"transcript": "ENST00000931052.1",
"protein_id": "ENSP00000601111.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5635,
"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": "A",
"aa_alt": "T",
"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.5632G>A",
"hgvs_p": "p.Ala1878Thr",
"transcript": "ENST00000645005.1",
"protein_id": "ENSP00000493471.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 1914,
"cds_start": 5632,
"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": "A",
"aa_alt": "T",
"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.5629G>A",
"hgvs_p": "p.Ala1877Thr",
"transcript": "ENST00000931051.1",
"protein_id": "ENSP00000601110.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5629,
"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": "A",
"aa_alt": "T",
"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.5614G>A",
"hgvs_p": "p.Ala1872Thr",
"transcript": "ENST00000931042.1",
"protein_id": "ENSP00000601101.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5614,
"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": "A",
"aa_alt": "T",
"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.5611G>A",
"hgvs_p": "p.Ala1871Thr",
"transcript": "ENST00000931045.1",
"protein_id": "ENSP00000601104.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 1907,
"cds_start": 5611,
"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": "A",
"aa_alt": "T",
"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.5605G>A",
"hgvs_p": "p.Ala1869Thr",
"transcript": "NM_001297553.2",
"protein_id": "NP_001284482.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5605,
"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": "A",
"aa_alt": "T",
"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.5605G>A",
"hgvs_p": "p.Ala1869Thr",
"transcript": "ENST00000645022.1",
"protein_id": "ENSP00000496163.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5605,
"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": "A",
"aa_alt": "T",
"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.5605G>A",
"hgvs_p": "p.Ala1869Thr",
"transcript": "ENST00000957180.1",
"protein_id": "ENSP00000627239.1",
"transcript_support_level": null,
"aa_start": 1869,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5605,
"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": "A",
"aa_alt": "T",
"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.5602G>A",
"hgvs_p": "p.Ala1868Thr",
"transcript": "ENST00000931049.1",
"protein_id": "ENSP00000601108.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5602,
"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": "A",
"aa_alt": "T",
"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.5602G>A",
"hgvs_p": "p.Ala1868Thr",
"transcript": "ENST00000957179.1",
"protein_id": "ENSP00000627238.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5602,
"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": "A",
"aa_alt": "T",
"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.5599G>A",
"hgvs_p": "p.Ala1867Thr",
"transcript": "ENST00000643335.1",
"protein_id": "ENSP00000496358.1",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 1903,
"cds_start": 5599,
"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": "A",
"aa_alt": "T",
"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.5596G>A",
"hgvs_p": "p.Ala1866Thr",
"transcript": "NM_001363606.2",
"protein_id": "NP_001350535.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5596,
"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": "A",
"aa_alt": "T",
"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.5593G>A",
"hgvs_p": "p.Ala1865Thr",
"transcript": "ENST00000931048.1",
"protein_id": "ENSP00000601107.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 1901,
"cds_start": 5593,
"cds_end": null,
"cds_length": 5706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644480.2",
"gene_symbol": "ENSG00000285238",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*707G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_199066.1",
"gene_symbol": "CHD4-AS1",
"hgnc_id": 58242,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.458+1434C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}