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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: 18-70054142-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=70054142&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 70054142,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000640769.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5174A>G",
"hgvs_p": "p.Lys1725Arg",
"transcript": "NM_173630.4",
"protein_id": "NP_775901.3",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 2226,
"cds_start": 5174,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 5203,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": "ENST00000640769.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5174A>G",
"hgvs_p": "p.Lys1725Arg",
"transcript": "ENST00000640769.2",
"protein_id": "ENSP00000491507.1",
"transcript_support_level": 2,
"aa_start": 1725,
"aa_end": null,
"aa_length": 2226,
"cds_start": 5174,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 5203,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": "NM_173630.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*3488A>G",
"hgvs_p": null,
"transcript": "ENST00000581161.5",
"protein_id": "ENSP00000462926.1",
"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": 6722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*2445A>G",
"hgvs_p": null,
"transcript": "ENST00000583043.5",
"protein_id": "ENSP00000462733.1",
"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": 6278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*3488A>G",
"hgvs_p": null,
"transcript": "ENST00000581161.5",
"protein_id": "ENSP00000462926.1",
"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": 6722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*2445A>G",
"hgvs_p": null,
"transcript": "ENST00000583043.5",
"protein_id": "ENSP00000462733.1",
"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": 6278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5174A>G",
"hgvs_p": "p.Lys1725Arg",
"transcript": "ENST00000255674.11",
"protein_id": "ENSP00000255674.7",
"transcript_support_level": 5,
"aa_start": 1725,
"aa_end": null,
"aa_length": 2200,
"cds_start": 5174,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 5174,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.2573A>G",
"hgvs_p": "p.Lys858Arg",
"transcript": "ENST00000677824.1",
"protein_id": "ENSP00000504646.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2573,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.2438A>G",
"hgvs_p": "p.Lys813Arg",
"transcript": "NM_001318520.2",
"protein_id": "NP_001305449.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1314,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 5020,
"cdna_end": null,
"cdna_length": 7647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5177A>G",
"hgvs_p": "p.Lys1726Arg",
"transcript": "XM_006722434.4",
"protein_id": "XP_006722497.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2227,
"cds_start": 5177,
"cds_end": null,
"cds_length": 6684,
"cdna_start": 5206,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.4937A>G",
"hgvs_p": "p.Lys1646Arg",
"transcript": "XM_011525902.3",
"protein_id": "XP_011524204.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 2147,
"cds_start": 4937,
"cds_end": null,
"cds_length": 6444,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.4934A>G",
"hgvs_p": "p.Lys1645Arg",
"transcript": "XM_017025693.2",
"protein_id": "XP_016881182.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 2146,
"cds_start": 4934,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 4963,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.4748A>G",
"hgvs_p": "p.Lys1583Arg",
"transcript": "XM_011525903.3",
"protein_id": "XP_011524205.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 2084,
"cds_start": 4748,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 4777,
"cdna_end": null,
"cdna_length": 7404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.4745A>G",
"hgvs_p": "p.Lys1582Arg",
"transcript": "XM_047437468.1",
"protein_id": "XP_047293424.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 2083,
"cds_start": 4745,
"cds_end": null,
"cds_length": 6252,
"cdna_start": 4774,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5177A>G",
"hgvs_p": "p.Lys1726Arg",
"transcript": "XM_006722435.4",
"protein_id": "XP_006722498.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2059,
"cds_start": 5177,
"cds_end": null,
"cds_length": 6180,
"cdna_start": 5206,
"cdna_end": null,
"cdna_length": 8425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.4535A>G",
"hgvs_p": "p.Lys1512Arg",
"transcript": "XM_017025694.2",
"protein_id": "XP_016881183.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 2013,
"cds_start": 4535,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 4800,
"cdna_end": null,
"cdna_length": 7427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5177A>G",
"hgvs_p": "p.Lys1726Arg",
"transcript": "XM_011525904.4",
"protein_id": "XP_011524206.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1990,
"cds_start": 5177,
"cds_end": null,
"cds_length": 5973,
"cdna_start": 5206,
"cdna_end": null,
"cdna_length": 7616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.4112A>G",
"hgvs_p": "p.Lys1371Arg",
"transcript": "XM_017025695.2",
"protein_id": "XP_016881184.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1872,
"cds_start": 4112,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 4238,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5177A>G",
"hgvs_p": "p.Lys1726Arg",
"transcript": "XM_011525905.3",
"protein_id": "XP_011524207.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1777,
"cds_start": 5177,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 5206,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.3677A>G",
"hgvs_p": "p.Lys1226Arg",
"transcript": "XM_011525906.3",
"protein_id": "XP_011524208.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1727,
"cds_start": 3677,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 6558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Lys658Arg",
"transcript": "XM_047437471.1",
"protein_id": "XP_047293427.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1973,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*298A>G",
"hgvs_p": null,
"transcript": "ENST00000579986.6",
"protein_id": "ENSP00000491518.1",
"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": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}