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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: 11-61367998-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61367998&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61367998,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000278826.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "NM_016464.5",
"protein_id": "NP_057548.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 162,
"cds_start": 376,
"cds_end": null,
"cds_length": 489,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": "ENST00000278826.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "ENST00000278826.11",
"protein_id": "ENSP00000278826.5",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 162,
"cds_start": 376,
"cds_end": null,
"cds_length": 489,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": "NM_016464.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.*587G>A",
"hgvs_p": null,
"transcript": "ENST00000543594.6",
"protein_id": "ENSP00000509354.1",
"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": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*1764G>A",
"hgvs_p": null,
"transcript": "ENST00000542946.2",
"protein_id": "ENSP00000445792.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.*587G>A",
"hgvs_p": null,
"transcript": "ENST00000543594.6",
"protein_id": "ENSP00000509354.1",
"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": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "NM_001410999.1",
"protein_id": "NP_001397928.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 177,
"cds_start": 376,
"cds_end": null,
"cds_length": 534,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "ENST00000692785.1",
"protein_id": "ENSP00000509310.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 177,
"cds_start": 376,
"cds_end": null,
"cds_length": 534,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Ile",
"transcript": "ENST00000692667.1",
"protein_id": "ENSP00000510180.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 193,
"cds_start": 376,
"cds_end": null,
"cds_length": 582,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Ser",
"transcript": "ENST00000685597.1",
"protein_id": "ENSP00000509403.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 187,
"cds_start": 376,
"cds_end": null,
"cds_length": 564,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "ENST00000692219.1",
"protein_id": "ENSP00000510149.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 162,
"cds_start": 376,
"cds_end": null,
"cds_length": 489,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "NM_001441180.1",
"protein_id": "NP_001428109.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 161,
"cds_start": 376,
"cds_end": null,
"cds_length": 486,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Glu126Lys",
"transcript": "NM_001441181.1",
"protein_id": "NP_001428110.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 134,
"cds_start": 376,
"cds_end": null,
"cds_length": 405,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Ile",
"transcript": "NM_001410998.1",
"protein_id": "NP_001397927.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 130,
"cds_start": 376,
"cds_end": null,
"cds_length": 393,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Ile",
"transcript": "ENST00000691720.1",
"protein_id": "ENSP00000509146.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 130,
"cds_start": 376,
"cds_end": null,
"cds_length": 393,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Arg",
"transcript": "NM_001410997.1",
"protein_id": "NP_001397926.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 127,
"cds_start": 376,
"cds_end": null,
"cds_length": 384,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Gly126Arg",
"transcript": "ENST00000451389.7",
"protein_id": "ENSP00000508581.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 127,
"cds_start": 376,
"cds_end": null,
"cds_length": 384,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"transcript": "NM_001330281.2",
"protein_id": "NP_001317210.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 104,
"cds_start": 202,
"cds_end": null,
"cds_length": 315,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"transcript": "ENST00000381787.2",
"protein_id": "ENSP00000371206.2",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 104,
"cds_start": 202,
"cds_end": null,
"cds_length": 315,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.1895G>A",
"hgvs_p": null,
"transcript": "ENST00000423772.6",
"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": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.1020G>A",
"hgvs_p": null,
"transcript": "ENST00000539776.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.94G>A",
"hgvs_p": null,
"transcript": "ENST00000543833.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.400G>A",
"hgvs_p": null,
"transcript": "ENST00000545420.1",
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Joubert syndrome 16",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}