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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: 2-144517341-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144517341&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 144517341,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014795.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "NM_014795.4",
"protein_id": "NP_055610.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 9265,
"mane_select": "ENST00000627532.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014795.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000627532.3",
"protein_id": "ENSP00000487174.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 9265,
"mane_select": "NM_014795.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627532.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000558170.6",
"protein_id": "ENSP00000454157.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558170.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000303660.8",
"protein_id": "ENSP00000302501.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 1213,
"cds_start": 10,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303660.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Pro33Ala",
"transcript": "ENST00000427902.5",
"protein_id": "ENSP00000395496.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 730,
"cds_start": 97,
"cds_end": null,
"cds_length": 2194,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427902.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "ENST00000392861.6",
"protein_id": "ENSP00000376601.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 466,
"cds_start": 94,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392861.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Pro33Ala",
"transcript": "ENST00000470879.5",
"protein_id": "ENSP00000475329.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 87,
"cds_start": 97,
"cds_end": null,
"cds_length": 264,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470879.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.260C>G",
"hgvs_p": null,
"transcript": "ENST00000472146.5",
"protein_id": null,
"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": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472146.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.10C>G",
"hgvs_p": null,
"transcript": "ENST00000484313.3",
"protein_id": "ENSP00000486341.1",
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484313.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000636471.1",
"protein_id": "ENSP00000490317.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1239,
"cds_start": 10,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 9583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636471.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000409487.7",
"protein_id": "ENSP00000386854.2",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 5361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409487.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000886176.1",
"protein_id": "ENSP00000556235.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886176.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000886177.1",
"protein_id": "ENSP00000556236.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 5367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886177.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000886179.1",
"protein_id": "ENSP00000556238.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 5330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886179.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000965901.1",
"protein_id": "ENSP00000635960.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 133,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965901.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000965902.1",
"protein_id": "ENSP00000635961.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1214,
"cds_start": 10,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 135,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965902.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000636026.2",
"protein_id": "ENSP00000490776.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1202,
"cds_start": 10,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636026.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "NM_001171653.2",
"protein_id": "NP_001165124.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1190,
"cds_start": 10,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171653.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000539609.7",
"protein_id": "ENSP00000443792.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 1190,
"cds_start": 10,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539609.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000886178.1",
"protein_id": "ENSP00000556237.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1190,
"cds_start": 10,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886178.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000637267.2",
"protein_id": "ENSP00000490293.2",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 611,
"cds_start": 10,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637267.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.10C>G",
"hgvs_p": "p.Pro4Ala",
"transcript": "ENST00000419938.5",
"protein_id": "ENSP00000394777.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 220,
"cds_start": 10,
"cds_end": null,
"cds_length": 663,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419938.5"
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "Mowat-Wilson syndrome|not provided|Inborn genetic diseases|ZEB2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}