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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: 13-32442619-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32442619&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32442619,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001320836.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "n.1889A>G",
"hgvs_p": null,
"transcript": "ENST00000380121.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000380121.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.3205A>G",
"hgvs_p": "p.Ile1069Val",
"transcript": "NM_001320836.3",
"protein_id": "NP_001307765.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320836.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.3205A>G",
"hgvs_p": "p.Ile1069Val",
"transcript": "NM_001387001.1",
"protein_id": "NP_001373930.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387001.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.3205A>G",
"hgvs_p": "p.Ile1069Val",
"transcript": "NM_001387002.1",
"protein_id": "NP_001373931.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387002.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2914A>G",
"hgvs_p": "p.Ile972Val",
"transcript": "NM_001387004.1",
"protein_id": "NP_001373933.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387004.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2914A>G",
"hgvs_p": "p.Ile972Val",
"transcript": "NM_001387017.1",
"protein_id": "NP_001373946.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387017.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2767A>G",
"hgvs_p": "p.Ile923Val",
"transcript": "NM_001387005.1",
"protein_id": "NP_001373934.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387005.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.2767A>G",
"hgvs_p": "p.Ile923Val",
"transcript": "NM_001387006.1",
"protein_id": "NP_001373935.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387006.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1966A>G",
"hgvs_p": "p.Ile656Val",
"transcript": "NM_001387008.1",
"protein_id": "NP_001373937.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 768,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387008.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1966A>G",
"hgvs_p": "p.Ile656Val",
"transcript": "NM_001387009.1",
"protein_id": "NP_001373938.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 768,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387009.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Ile640Val",
"transcript": "NM_033111.5",
"protein_id": "NP_149102.3",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 752,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033111.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Ile640Val",
"transcript": "ENST00000399396.7",
"protein_id": "ENSP00000382328.3",
"transcript_support_level": 5,
"aa_start": 640,
"aa_end": null,
"aa_length": 752,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399396.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "NM_001278432.2",
"protein_id": "NP_001265361.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 737,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278432.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "NM_001387015.1",
"protein_id": "NP_001373944.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 737,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387015.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "NM_001387018.1",
"protein_id": "NP_001373947.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 737,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387018.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "NM_001387019.1",
"protein_id": "NP_001373948.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 737,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387019.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "ENST00000357505.10",
"protein_id": "ENSP00000350104.6",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 737,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357505.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "ENST00000504114.5",
"protein_id": "ENSP00000427477.1",
"transcript_support_level": 5,
"aa_start": 625,
"aa_end": null,
"aa_length": 737,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504114.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Ile585Val",
"transcript": "NM_001387020.1",
"protein_id": "NP_001373949.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 697,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387020.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Ile539Val",
"transcript": "NM_001387016.1",
"protein_id": "NP_001373945.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 651,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387016.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1528A>G",
"hgvs_p": "p.Ile510Val",
"transcript": "ENST00000674456.1",
"protein_id": "ENSP00000501483.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 622,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674456.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1657A>G",
"hgvs_p": "p.Ile553Val",
"transcript": "XM_047430041.1",
"protein_id": "XP_047285997.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 665,
"cds_start": 1657,
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"revel_score": 0.005,
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"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}