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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: 10-221300-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=221300&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 221300,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_006624.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001370100.5",
"protein_id": "NP_001357029.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "ENST00000381604.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370100.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000381604.9",
"protein_id": "ENSP00000371017.6",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": "NM_001370100.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381604.9"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000397962.8",
"protein_id": "ENSP00000381053.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397962.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000558098.4",
"protein_id": "ENSP00000452959.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 568,
"cds_start": 383,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558098.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000509513.6",
"protein_id": "ENSP00000424205.2",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 567,
"cds_start": 383,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509513.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*325delC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381584.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "n.*325delC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381584.6"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000972248.1",
"protein_id": "ENSP00000642307.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 625,
"cds_start": 383,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972248.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.428delC",
"hgvs_p": "p.Ser143fs",
"transcript": "ENST00000397955.7",
"protein_id": "ENSP00000381046.3",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 617,
"cds_start": 428,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397955.7"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.428delC",
"hgvs_p": "p.Ser143fs",
"transcript": "ENST00000857283.1",
"protein_id": "ENSP00000527342.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 617,
"cds_start": 428,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857283.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.428delC",
"hgvs_p": "p.Ser143fs",
"transcript": "ENST00000972242.1",
"protein_id": "ENSP00000642301.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 617,
"cds_start": 428,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972242.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001370097.3",
"protein_id": "NP_001357026.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370097.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001370098.2",
"protein_id": "NP_001357027.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370098.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001370099.2",
"protein_id": "NP_001357028.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370099.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001370101.2",
"protein_id": "NP_001357030.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370101.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001370102.2",
"protein_id": "NP_001357031.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370102.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_006624.7",
"protein_id": "NP_006615.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006624.7"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000381591.5",
"protein_id": "ENSP00000371003.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381591.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000704301.1",
"protein_id": "ENSP00000515825.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704301.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000857249.1",
"protein_id": "ENSP00000527308.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857249.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000857257.1",
"protein_id": "ENSP00000527316.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857257.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND11",
"gene_hgnc_id": 16966,
"hgvs_c": "c.383delC",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000857268.1",
"protein_id": "ENSP00000527327.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 602,
"cds_start": 383,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857268.1"
},
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"splice_score_selected": 0,
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{
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],
"clinvar_disease": " autosomal dominant 30,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Intellectual disability, autosomal dominant 30",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}