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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: 16-75542602-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75542602&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75542602,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000568377.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.664G>C",
"hgvs_p": "p.Val222Leu",
"transcript": "NM_001077418.3",
"protein_id": "NP_001070886.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 316,
"cds_start": 664,
"cds_end": null,
"cds_length": 951,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": "ENST00000258173.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.664G>C",
"hgvs_p": "p.Val222Leu",
"transcript": "ENST00000258173.11",
"protein_id": "ENSP00000258173.5",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 316,
"cds_start": 664,
"cds_end": null,
"cds_length": 951,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": "NM_001077418.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Val251Leu",
"transcript": "ENST00000568377.5",
"protein_id": "ENSP00000476267.1",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 345,
"cds_start": 751,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Val174Leu",
"transcript": "ENST00000565067.5",
"protein_id": "ENSP00000457254.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 268,
"cds_start": 520,
"cds_end": null,
"cds_length": 807,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260092",
"gene_hgnc_id": null,
"hgvs_c": "n.157G>C",
"hgvs_p": null,
"transcript": "ENST00000460606.1",
"protein_id": "ENSP00000457544.1",
"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": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*466G>C",
"hgvs_p": null,
"transcript": "ENST00000562410.5",
"protein_id": "ENSP00000454582.1",
"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": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*44G>C",
"hgvs_p": null,
"transcript": "ENST00000570006.5",
"protein_id": "ENSP00000455520.1",
"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": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*466G>C",
"hgvs_p": null,
"transcript": "ENST00000562410.5",
"protein_id": "ENSP00000454582.1",
"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": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*44G>C",
"hgvs_p": null,
"transcript": "ENST00000570006.5",
"protein_id": "ENSP00000455520.1",
"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": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Val275Leu",
"transcript": "NM_001077416.2",
"protein_id": "NP_001070884.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 369,
"cds_start": 823,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.664G>C",
"hgvs_p": "p.Gly222Arg",
"transcript": "ENST00000693682.1",
"protein_id": "ENSP00000508670.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 243,
"cds_start": 664,
"cds_end": null,
"cds_length": 732,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.349G>C",
"hgvs_p": "p.Val117Leu",
"transcript": "ENST00000686680.1",
"protein_id": "ENSP00000508892.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 211,
"cds_start": 349,
"cds_end": null,
"cds_length": 636,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.316G>C",
"hgvs_p": "p.Val106Leu",
"transcript": "ENST00000692689.1",
"protein_id": "ENSP00000509732.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 200,
"cds_start": 316,
"cds_end": null,
"cds_length": 603,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Val98Leu",
"transcript": "ENST00000688195.1",
"protein_id": "ENSP00000510115.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 192,
"cds_start": 292,
"cds_end": null,
"cds_length": 579,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259992",
"gene_hgnc_id": null,
"hgvs_c": "n.741G>C",
"hgvs_p": null,
"transcript": "ENST00000564489.1",
"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": 798,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.427G>C",
"hgvs_p": null,
"transcript": "ENST00000564576.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.408G>C",
"hgvs_p": null,
"transcript": "ENST00000569294.1",
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*625G>C",
"hgvs_p": null,
"transcript": "ENST00000686547.1",
"protein_id": "ENSP00000508790.1",
"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": 1081,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.664G>C",
"hgvs_p": null,
"transcript": "ENST00000688270.1",
"protein_id": "ENSP00000509823.1",
"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": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*466G>C",
"hgvs_p": null,
"transcript": "ENST00000688618.1",
"protein_id": "ENSP00000509271.1",
"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": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*762G>C",
"hgvs_p": null,
"transcript": "ENST00000689040.1",
"protein_id": "ENSP00000508573.1",
"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": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*415G>C",
"hgvs_p": null,
"transcript": "ENST00000692097.1",
"protein_id": "ENSP00000509668.1",
"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": 2902,
"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": 5,
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"exon_count": 6,
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": " type 11,Joubert syndrome 20,Meckel syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Meckel syndrome, type 11;Joubert syndrome 20",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}