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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: 10-252416-CCAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=252416&ref=CCAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 252416,
"ref": "CCAG",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000381604.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_001370100.5",
"protein_id": "NP_001357029.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "ENST00000381604.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "ENST00000381604.9",
"protein_id": "ENSP00000371017.6",
"transcript_support_level": 5,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "NM_001370100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "ENST00000397962.8",
"protein_id": "ENSP00000381053.3",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*1701_*1703delCAG",
"hgvs_p": null,
"transcript": "ENST00000381584.6",
"protein_id": "ENSP00000370996.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*1701_*1703delCAG",
"hgvs_p": null,
"transcript": "ENST00000381584.6",
"protein_id": "ENSP00000370996.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1804_1806delCAG",
"hgvs_p": "p.Gln602del",
"transcript": "ENST00000397955.7",
"protein_id": "ENSP00000381046.3",
"transcript_support_level": 5,
"aa_start": 602,
"aa_end": null,
"aa_length": 617,
"cds_start": 1804,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_001370097.3",
"protein_id": "NP_001357026.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_001370098.2",
"protein_id": "NP_001357027.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_001370099.2",
"protein_id": "NP_001357028.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_001370101.2",
"protein_id": "NP_001357030.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_001370102.2",
"protein_id": "NP_001357031.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "NM_006624.7",
"protein_id": "NP_006615.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "ENST00000381591.5",
"protein_id": "ENSP00000371003.1",
"transcript_support_level": 5,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1759_1761delCAG",
"hgvs_p": "p.Gln587del",
"transcript": "ENST00000704301.1",
"protein_id": "ENSP00000515825.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 602,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1756_1758delCAG",
"hgvs_p": "p.Gln586del",
"transcript": "NM_001370115.2",
"protein_id": "NP_001357044.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 601,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1756_1758delCAG",
"hgvs_p": "p.Gln586del",
"transcript": "ENST00000627286.2",
"protein_id": "ENSP00000487386.2",
"transcript_support_level": 5,
"aa_start": 586,
"aa_end": null,
"aa_length": 601,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1708_1710delCAG",
"hgvs_p": "p.Gln570del",
"transcript": "NM_001330057.3",
"protein_id": "NP_001316986.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 585,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1708_1710delCAG",
"hgvs_p": "p.Gln570del",
"transcript": "NM_001370112.2",
"protein_id": "NP_001357041.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 585,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1693_1695delCAG",
"hgvs_p": "p.Gln565del",
"transcript": "NM_001370116.2",
"protein_id": "NP_001357045.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 580,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1690_1692delCAG",
"hgvs_p": "p.Gln564del",
"transcript": "NM_001370117.2",
"protein_id": "NP_001357046.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 579,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1690_1692delCAG",
"hgvs_p": "p.Gln564del",
"transcript": "ENST00000704315.1",
"protein_id": "ENSP00000515835.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 579,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.1666_1668delCAG",
"hgvs_p": "p.Gln556del",
"transcript": "NM_001370113.2",
"protein_id": "NP_001357042.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 571,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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}
],
"gene_symbol": "ZMYND11",
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{
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": " autosomal dominant 30,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 30",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}