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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: 7-26192549-TCCTCCACTG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=26192549&ref=TCCTCCACTG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 26192549,
"ref": "TCCTCCACTG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000618183.5",
"consequences": [
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "NM_002137.4",
"protein_id": "NP_002128.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "ENST00000618183.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "ENST00000618183.5",
"protein_id": "ENSP00000478691.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "NM_002137.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1020_1028delCAGTGGAGG",
"hgvs_p": "p.Ser341_Gly343del",
"transcript": "ENST00000354667.8",
"protein_id": "ENSP00000346694.4",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 353,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1020_1028delCAGTGGAGG",
"hgvs_p": "p.Ser341_Gly343del",
"transcript": "ENST00000356674.8",
"protein_id": "ENSP00000349101.8",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 353,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "n.2582_2590delCAGTGGAGG",
"hgvs_p": null,
"transcript": "ENST00000476233.2",
"protein_id": null,
"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": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1068_1076delCAGTGGAGG",
"hgvs_p": "p.Ser357_Gly359del",
"transcript": "ENST00000715986.1",
"protein_id": "ENSP00000520548.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 369,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1020_1028delCAGTGGAGG",
"hgvs_p": "p.Ser341_Gly343del",
"transcript": "NM_001438568.1",
"protein_id": "NP_001425497.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 353,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1020_1028delCAGTGGAGG",
"hgvs_p": "p.Ser341_Gly343del",
"transcript": "NM_001438569.1",
"protein_id": "NP_001425498.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 353,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1020_1028delCAGTGGAGG",
"hgvs_p": "p.Ser341_Gly343del",
"transcript": "NM_001438570.1",
"protein_id": "NP_001425499.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 353,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.1020_1028delCAGTGGAGG",
"hgvs_p": "p.Ser341_Gly343del",
"transcript": "NM_031243.4",
"protein_id": "NP_112533.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 353,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "NM_001438063.1",
"protein_id": "NP_001424992.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "NM_001438571.1",
"protein_id": "NP_001425500.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "NM_001438572.1",
"protein_id": "NP_001425501.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "ENST00000608362.2",
"protein_id": "ENSP00000497298.1",
"transcript_support_level": 6,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "ENST00000676749.1",
"protein_id": "ENSP00000504799.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "ENST00000677656.1",
"protein_id": "ENSP00000503060.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.984_992delCAGTGGAGG",
"hgvs_p": "p.Ser329_Gly331del",
"transcript": "ENST00000677839.1",
"protein_id": "ENSP00000504439.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 341,
"cds_start": 984,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.900_908delCAGTGGAGG",
"hgvs_p": "p.Ser301_Gly303del",
"transcript": "NM_001438573.1",
"protein_id": "NP_001425502.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 313,
"cds_start": 900,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.900_908delCAGTGGAGG",
"hgvs_p": "p.Ser301_Gly303del",
"transcript": "NM_001438574.1",
"protein_id": "NP_001425503.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 313,
"cds_start": 900,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.864_872delCAGTGGAGG",
"hgvs_p": "p.Ser289_Gly291del",
"transcript": "NM_001438575.1",
"protein_id": "NP_001425504.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 301,
"cds_start": 864,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
"gene_hgnc_id": 5033,
"hgvs_c": "c.864_872delCAGTGGAGG",
"hgvs_p": "p.Ser289_Gly291del",
"transcript": "NM_001438576.1",
"protein_id": "NP_001425505.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 301,
"cds_start": 864,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GSGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA2B1",
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}