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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: 11-118104709-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118104709&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118104709,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019894.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "NM_019894.4",
"protein_id": "NP_063947.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 437,
"cds_start": 329,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000437212.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019894.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "ENST00000437212.8",
"protein_id": "ENSP00000416037.3",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 437,
"cds_start": 329,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019894.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437212.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "ENST00000522824.5",
"protein_id": "ENSP00000430547.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 432,
"cds_start": 329,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522824.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.329G>A",
"hgvs_p": null,
"transcript": "ENST00000714375.1",
"protein_id": "ENSP00000519642.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000714375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.329G>A",
"hgvs_p": null,
"transcript": "ENST00000714378.1",
"protein_id": "ENSP00000519645.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000714378.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "ENST00000951076.1",
"protein_id": "ENSP00000621135.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 448,
"cds_start": 329,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951076.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000896311.1",
"protein_id": "ENSP00000566370.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 446,
"cds_start": 323,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896311.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "NM_001173551.2",
"protein_id": "NP_001167022.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 435,
"cds_start": 323,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173551.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000534111.5",
"protein_id": "ENSP00000435184.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 435,
"cds_start": 323,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534111.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000896313.1",
"protein_id": "ENSP00000566372.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 433,
"cds_start": 323,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896313.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "NM_001083947.2",
"protein_id": "NP_001077416.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 432,
"cds_start": 329,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083947.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"transcript": "NM_001290094.2",
"protein_id": "NP_001277023.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 412,
"cds_start": 254,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290094.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000896314.1",
"protein_id": "ENSP00000566373.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 402,
"cds_start": 323,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896314.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000616579.4",
"protein_id": "ENSP00000478147.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 399,
"cds_start": 215,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616579.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70Gln",
"transcript": "NM_001173552.2",
"protein_id": "NP_001167023.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 397,
"cds_start": 209,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173552.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70Gln",
"transcript": "ENST00000523251.5",
"protein_id": "ENSP00000429209.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 397,
"cds_start": 209,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523251.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000896312.1",
"protein_id": "ENSP00000566371.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 397,
"cds_start": 323,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896312.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"transcript": "ENST00000522151.6",
"protein_id": "ENSP00000428407.2",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 384,
"cds_start": 170,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522151.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000517544.2",
"protein_id": "ENSP00000429833.2",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 179,
"cds_start": 323,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517544.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "XM_005271613.5",
"protein_id": "XP_005271670.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 494,
"cds_start": 329,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271613.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "XM_005271614.4",
"protein_id": "XP_005271671.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 492,
"cds_start": 323,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271614.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"transcript": "XM_011542901.3",
"protein_id": "XP_011541203.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 489,
"cds_start": 329,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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{
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],
"verdict": "Uncertain_significance",
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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
}