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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: 10-31520904-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=31520904&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 31520904,
"ref": "A",
"alt": "AG",
"effect": "frameshift_variant",
"transcript": "ENST00000424869.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1579dupG",
"hgvs_p": "p.Val527fs",
"transcript": "NM_001174096.2",
"protein_id": "NP_001167567.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1580,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "ENST00000424869.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1579dupG",
"hgvs_p": "p.Val527fs",
"transcript": "ENST00000424869.6",
"protein_id": "ENSP00000415961.2",
"transcript_support_level": 5,
"aa_start": 527,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1580,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "NM_001174096.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1576dupG",
"hgvs_p": "p.Val526fs",
"transcript": "ENST00000320985.14",
"protein_id": "ENSP00000319248.9",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1577,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 5423,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.*1716dupG",
"hgvs_p": null,
"transcript": "ENST00000437844.6",
"protein_id": "ENSP00000405958.3",
"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": 6246,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.2289dupG",
"hgvs_p": null,
"transcript": "ENST00000488625.6",
"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": 6026,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.1645dupG",
"hgvs_p": null,
"transcript": "ENST00000559858.5",
"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": 2745,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.*1716dupG",
"hgvs_p": null,
"transcript": "ENST00000437844.6",
"protein_id": "ENSP00000405958.3",
"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": 6246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1576dupG",
"hgvs_p": "p.Val526fs",
"transcript": "NM_030751.6",
"protein_id": "NP_110378.3",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1577,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1537dupG",
"hgvs_p": "p.Val513fs",
"transcript": "NM_001323676.2",
"protein_id": "NP_001310605.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1534dupG",
"hgvs_p": "p.Val512fs",
"transcript": "NM_001323677.2",
"protein_id": "NP_001310606.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1528dupG",
"hgvs_p": "p.Val510fs",
"transcript": "NM_001128128.3",
"protein_id": "NP_001121600.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1529,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1528dupG",
"hgvs_p": "p.Val510fs",
"transcript": "ENST00000446923.7",
"protein_id": "ENSP00000391612.2",
"transcript_support_level": 5,
"aa_start": 510,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1529,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1525dupG",
"hgvs_p": "p.Val509fs",
"transcript": "NM_001174094.2",
"protein_id": "NP_001167565.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1526,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1516dupG",
"hgvs_p": "p.Val506fs",
"transcript": "NM_001174093.2",
"protein_id": "NP_001167564.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1517,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1516dupG",
"hgvs_p": "p.Val506fs",
"transcript": "ENST00000560721.6",
"protein_id": "ENSP00000452787.1",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1517,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1375dupG",
"hgvs_p": "p.Val459fs",
"transcript": "NM_001174095.2",
"protein_id": "NP_001167566.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 1057,
"cds_start": 1376,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1375dupG",
"hgvs_p": "p.Val459fs",
"transcript": "ENST00000542815.7",
"protein_id": "ENSP00000444891.2",
"transcript_support_level": 2,
"aa_start": 459,
"aa_end": null,
"aa_length": 1057,
"cds_start": 1376,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1354dupG",
"hgvs_p": "p.Val452fs",
"transcript": "NM_001323674.2",
"protein_id": "NP_001310603.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1355,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1312dupG",
"hgvs_p": "p.Val438fs",
"transcript": "NM_001323675.2",
"protein_id": "NP_001310604.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1036,
"cds_start": 1313,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.1303dupG",
"hgvs_p": "p.Val435fs",
"transcript": "NM_001323678.2",
"protein_id": "NP_001310607.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1033,
"cds_start": 1304,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.922dupG",
"hgvs_p": "p.Val308fs",
"transcript": "NM_001323638.2",
"protein_id": "NP_001310567.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 906,
"cds_start": 923,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 6706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.922dupG",
"hgvs_p": "p.Val308fs",
"transcript": "NM_001323641.2",
"protein_id": "NP_001310570.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 906,
"cds_start": 923,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 6173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.922dupG",
"hgvs_p": "p.Val308fs",
"transcript": "NM_001323642.2",
"protein_id": "NP_001310571.1",
"transcript_support_level": null,
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"phylop100way_score": 3.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000424869.6",
"gene_symbol": "ZEB1",
"hgnc_id": 11642,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1579dupG",
"hgvs_p": "p.Val527fs"
}
],
"clinvar_disease": "Corneal dystrophy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Corneal dystrophy|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}