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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: 12-6573091-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6573091&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6573091,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001273.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5540A>G",
"hgvs_p": "p.Asn1847Ser",
"transcript": "NM_001273.5",
"protein_id": "NP_001264.2",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5540,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5540A>G",
"hgvs_p": "p.Asn1847Ser",
"transcript": "ENST00000544040.7",
"protein_id": "ENSP00000440542.2",
"transcript_support_level": 5,
"aa_start": 1847,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5540,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5507A>G",
"hgvs_p": "p.Asn1836Ser",
"transcript": "ENST00000357008.7",
"protein_id": "ENSP00000349508.3",
"transcript_support_level": 1,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5507,
"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": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.*621A>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": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.*621A>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.10-6474A>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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5624A>G",
"hgvs_p": "p.Asn1875Ser",
"transcript": "ENST00000645095.1",
"protein_id": "ENSP00000496634.1",
"transcript_support_level": null,
"aa_start": 1875,
"aa_end": null,
"aa_length": 1940,
"cds_start": 5624,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5615A>G",
"hgvs_p": "p.Asn1872Ser",
"transcript": "ENST00000544484.6",
"protein_id": "ENSP00000440392.1",
"transcript_support_level": 2,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1937,
"cds_start": 5615,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5564A>G",
"hgvs_p": "p.Asn1855Ser",
"transcript": "ENST00000642879.1",
"protein_id": "ENSP00000494456.1",
"transcript_support_level": null,
"aa_start": 1855,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5564,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5546A>G",
"hgvs_p": "p.Asn1849Ser",
"transcript": "ENST00000931052.1",
"protein_id": "ENSP00000601111.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1915,
"cds_start": 5546,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5546A>G",
"hgvs_p": "p.Asn1849Ser",
"transcript": "ENST00000645005.1",
"protein_id": "ENSP00000493471.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1914,
"cds_start": 5546,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5540A>G",
"hgvs_p": "p.Asn1847Ser",
"transcript": "ENST00000931051.1",
"protein_id": "ENSP00000601110.1",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5540,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5525A>G",
"hgvs_p": "p.Asn1842Ser",
"transcript": "ENST00000931042.1",
"protein_id": "ENSP00000601101.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5525,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5525A>G",
"hgvs_p": "p.Asn1842Ser",
"transcript": "ENST00000931045.1",
"protein_id": "ENSP00000601104.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1907,
"cds_start": 5525,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5519A>G",
"hgvs_p": "p.Asn1840Ser",
"transcript": "NM_001297553.2",
"protein_id": "NP_001284482.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5519,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5519A>G",
"hgvs_p": "p.Asn1840Ser",
"transcript": "ENST00000645022.1",
"protein_id": "ENSP00000496163.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5519,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5519A>G",
"hgvs_p": "p.Asn1840Ser",
"transcript": "ENST00000957180.1",
"protein_id": "ENSP00000627239.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 1905,
"cds_start": 5519,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5516A>G",
"hgvs_p": "p.Asn1839Ser",
"transcript": "ENST00000931049.1",
"protein_id": "ENSP00000601108.1",
"transcript_support_level": null,
"aa_start": 1839,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5516,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5516A>G",
"hgvs_p": "p.Asn1839Ser",
"transcript": "ENST00000957179.1",
"protein_id": "ENSP00000627238.1",
"transcript_support_level": null,
"aa_start": 1839,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5516,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5513A>G",
"hgvs_p": "p.Asn1838Ser",
"transcript": "ENST00000643335.1",
"protein_id": "ENSP00000496358.1",
"transcript_support_level": null,
"aa_start": 1838,
"aa_end": null,
"aa_length": 1903,
"cds_start": 5513,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5507A>G",
"hgvs_p": "p.Asn1836Ser",
"transcript": "NM_001363606.2",
"protein_id": "NP_001350535.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1902,
"cds_start": 5507,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5507A>G",
"hgvs_p": "p.Asn1836Ser",
"transcript": "ENST00000931048.1",
"protein_id": "ENSP00000601107.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1901,
"cds_start": 5507,
"cds_end": null,
"cds_length": 5706,
"cdna_start": null,
"cdna_end": null,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}