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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: 4-102593501-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102593501&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102593501,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003998.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "NM_003998.4",
"protein_id": "NP_003989.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226574.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003998.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000226574.9",
"protein_id": "ENSP00000226574.4",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003998.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226574.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000394820.8",
"protein_id": "ENSP00000378297.4",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394820.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000505458.5",
"protein_id": "ENSP00000424790.1",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505458.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000938144.1",
"protein_id": "ENSP00000608203.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 982,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938144.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1167T>C",
"hgvs_p": "p.Ala389Ala",
"transcript": "ENST00000507079.6",
"protein_id": "ENSP00000426147.2",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 977,
"cds_start": 1167,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507079.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "NM_001382625.1",
"protein_id": "NP_001369554.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382625.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "NM_001382626.1",
"protein_id": "NP_001369555.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382626.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000509165.2",
"protein_id": "ENSP00000423877.2",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509165.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000878343.1",
"protein_id": "ENSP00000548402.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878343.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000966665.1",
"protein_id": "ENSP00000636724.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966665.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000966666.1",
"protein_id": "ENSP00000636725.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 969,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966666.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "NM_001165412.2",
"protein_id": "NP_001158884.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165412.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "NM_001319226.2",
"protein_id": "NP_001306155.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319226.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "NM_001382627.1",
"protein_id": "NP_001369556.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382627.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000878340.1",
"protein_id": "ENSP00000548399.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878340.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000966660.1",
"protein_id": "ENSP00000636719.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 968,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966660.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000966663.1",
"protein_id": "ENSP00000636722.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966663.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000966664.1",
"protein_id": "ENSP00000636723.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 968,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966664.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1137T>C",
"hgvs_p": "p.Ala379Ala",
"transcript": "ENST00000878341.1",
"protein_id": "ENSP00000548400.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 967,
"cds_start": 1137,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878341.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1140T>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000938143.1",
"protein_id": "ENSP00000608202.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 966,
"cds_start": 1140,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938143.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala",
"transcript": "ENST00000966659.1",
"protein_id": "ENSP00000636718.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 964,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -7.165,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003998.4",
"gene_symbol": "NFKB1",
"hgnc_id": 7794,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Ala381Ala"
}
],
"clinvar_disease": " 12, common variable,Immunodeficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not provided|Immunodeficiency, common variable, 12|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}