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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: 2-168851318-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=168851318&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 168851318,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000317647.12",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ile257Val",
"transcript": "NM_001039724.4",
"protein_id": "NP_001034813.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 506,
"cds_start": 769,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "ENST00000317647.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ile257Val",
"transcript": "ENST00000317647.12",
"protein_id": "ENSP00000318921.7",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 506,
"cds_start": 769,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "NM_001039724.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"transcript": "ENST00000397209.6",
"protein_id": "ENSP00000380392.2",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 478,
"cds_start": 685,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000397206.6",
"protein_id": "ENSP00000380390.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 428,
"cds_start": 535,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "ENST00000445023.6",
"protein_id": "ENSP00000404413.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 428,
"cds_start": 535,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Ile314Val",
"transcript": "NM_001171631.2",
"protein_id": "NP_001165102.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 563,
"cds_start": 940,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Ile314Val",
"transcript": "ENST00000444448.6",
"protein_id": "ENSP00000394051.2",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 563,
"cds_start": 940,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Ile314Val",
"transcript": "ENST00000458381.6",
"protein_id": "ENSP00000402140.2",
"transcript_support_level": 2,
"aa_start": 314,
"aa_end": null,
"aa_length": 563,
"cds_start": 940,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"transcript": "NM_001171632.2",
"protein_id": "NP_001165103.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 478,
"cds_start": 685,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "NM_052946.4",
"protein_id": "NP_443178.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 428,
"cds_start": 535,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Ile293Val",
"transcript": "XM_005246270.2",
"protein_id": "XP_005246327.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 542,
"cds_start": 877,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Ile314Val",
"transcript": "XM_006712233.4",
"protein_id": "XP_006712296.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 542,
"cds_start": 940,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Ile314Val",
"transcript": "XM_011510540.3",
"protein_id": "XP_011508842.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 521,
"cds_start": 940,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ile257Val",
"transcript": "XM_017003278.2",
"protein_id": "XP_016858767.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 485,
"cds_start": 769,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "XM_017003279.2",
"protein_id": "XP_016858768.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 485,
"cds_start": 706,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "XM_024452662.2",
"protein_id": "XP_024308430.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 485,
"cds_start": 706,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Ile132Val",
"transcript": "XM_011510543.3",
"protein_id": "XP_011508845.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 381,
"cds_start": 394,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Ile75Val",
"transcript": "XM_047443189.1",
"protein_id": "XP_047299145.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 324,
"cds_start": 223,
"cds_end": null,
"cds_length": 975,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1544,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.205A>G",
"hgvs_p": null,
"transcript": "ENST00000486873.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 594,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.950A>G",
"hgvs_p": null,
"transcript": "XR_007069110.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1557,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.950A>G",
"hgvs_p": null,
"transcript": "XR_922836.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPC25",
"gene_hgnc_id": 24031,
"hgvs_c": "n.420-17096T>C",
"hgvs_p": null,
"transcript": "ENST00000479309.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.*136A>G",
"hgvs_p": null,
"transcript": "ENST00000447264.2",
"protein_id": "ENSP00000390383.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": -4,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"dbsnp": "rs138432429",
"frequency_reference_population": 0.000024165185,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000157366,
"gnomad_genomes_af": 0.000105035,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007154107093811035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0546,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.302,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000317647.12",
"gene_symbol": "NOSTRIN",
"hgnc_id": 20203,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Ile257Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000479309.6",
"gene_symbol": "SPC25",
"hgnc_id": 24031,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.420-17096T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}