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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: 4-113345938-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113345938&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113345938,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000357077.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4287A>C",
"hgvs_p": "p.Ser1429Ser",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 1429,
"aa_end": null,
"aa_length": 3957,
"cds_start": 4287,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 4363,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4287A>C",
"hgvs_p": "p.Ser1429Ser",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 1429,
"aa_end": null,
"aa_length": 3957,
"cds_start": 4287,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 4363,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4428A>C",
"hgvs_p": "p.Ser1476Ser",
"transcript": "ENST00000506344.6",
"protein_id": "ENSP00000422888.2",
"transcript_support_level": 1,
"aa_start": 1476,
"aa_end": null,
"aa_length": 4183,
"cds_start": 4428,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 4678,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4287A>C",
"hgvs_p": "p.Ser1429Ser",
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": 1429,
"aa_end": null,
"aa_length": 1872,
"cds_start": 4287,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 4340,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4260A>C",
"hgvs_p": "p.Ser1420Ser",
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4260,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4455,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1323A>C",
"hgvs_p": "p.Ser441Ser",
"transcript": "ENST00000514960.5",
"protein_id": "ENSP00000422853.1",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 965,
"cds_start": 1323,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.969A>C",
"hgvs_p": "p.Ser323Ser",
"transcript": "ENST00000510275.8",
"protein_id": "ENSP00000421023.4",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 683,
"cds_start": 969,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4428A>C",
"hgvs_p": "p.Ser1476Ser",
"transcript": "NM_001386174.1",
"protein_id": "NP_001373103.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 4183,
"cds_start": 4428,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 4678,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4404A>C",
"hgvs_p": "p.Ser1468Ser",
"transcript": "NM_001386175.1",
"protein_id": "NP_001373104.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 4175,
"cds_start": 4404,
"cds_end": null,
"cds_length": 12528,
"cdna_start": 4654,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4125A>C",
"hgvs_p": "p.Ser1375Ser",
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 3995,
"cds_start": 4125,
"cds_end": null,
"cds_length": 11988,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4368A>C",
"hgvs_p": "p.Ser1456Ser",
"transcript": "ENST00000672240.1",
"protein_id": "ENSP00000500548.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 3984,
"cds_start": 4368,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 4961,
"cdna_end": null,
"cdna_length": 15298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4332A>C",
"hgvs_p": "p.Ser1444Ser",
"transcript": "ENST00000671971.1",
"protein_id": "ENSP00000499832.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 3972,
"cds_start": 4332,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 4925,
"cdna_end": null,
"cdna_length": 15262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4125A>C",
"hgvs_p": "p.Ser1375Ser",
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 3964,
"cds_start": 4125,
"cds_end": null,
"cds_length": 11895,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 14363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4125A>C",
"hgvs_p": "p.Ser1375Ser",
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
"transcript_support_level": 5,
"aa_start": 1375,
"aa_end": null,
"aa_length": 3961,
"cds_start": 4125,
"cds_end": null,
"cds_length": 11886,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 12641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4086A>C",
"hgvs_p": "p.Ser1362Ser",
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": 1362,
"aa_end": null,
"aa_length": 3940,
"cds_start": 4086,
"cds_end": null,
"cds_length": 11823,
"cdna_start": 4285,
"cdna_end": null,
"cdna_length": 14287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4233A>C",
"hgvs_p": "p.Ser1411Ser",
"transcript": "ENST00000673363.1",
"protein_id": "ENSP00000500539.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 3939,
"cds_start": 4233,
"cds_end": null,
"cds_length": 11820,
"cdna_start": 4826,
"cdna_end": null,
"cdna_length": 15163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4224A>C",
"hgvs_p": "p.Ser1408Ser",
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
"aa_length": 3936,
"cds_start": 4224,
"cds_end": null,
"cds_length": 11811,
"cdna_start": 4434,
"cdna_end": null,
"cdna_length": 14771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4125A>C",
"hgvs_p": "p.Ser1375Ser",
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 3934,
"cds_start": 4125,
"cds_end": null,
"cds_length": 11805,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 14485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4188A>C",
"hgvs_p": "p.Ser1396Ser",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
"aa_start": 1396,
"aa_end": null,
"aa_length": 3924,
"cds_start": 4188,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 11775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4188A>C",
"hgvs_p": "p.Ser1396Ser",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 3924,
"cds_start": 4188,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 4395,
"cdna_end": null,
"cdna_length": 14732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4161A>C",
"hgvs_p": "p.Ser1387Ser",
"transcript": "ENST00000671809.1",
"protein_id": "ENSP00000500872.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 3915,
"cds_start": 4161,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 4360,
"cdna_end": null,
"cdna_length": 14697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4125A>C",
"hgvs_p": "p.Ser1375Ser",
"transcript": "ENST00000672090.1",
"protein_id": "ENSP00000500540.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 3903,
"cds_start": 4125,
"cds_end": null,
"cds_length": 11712,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 14661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 15,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357077.9",
"gene_symbol": "ANK2",
"hgnc_id": 493,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.4287A>C",
"hgvs_p": "p.Ser1429Ser"
}
],
"clinvar_disease": "Long QT syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}