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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: X-110173308-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=110173308&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 110173308,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032227.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "NM_032227.4",
"protein_id": "NP_115603.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372068.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032227.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "ENST00000372068.7",
"protein_id": "ENSP00000361138.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372068.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "NM_001353849.2",
"protein_id": "NP_001340778.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353849.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "ENST00000372073.5",
"protein_id": "ENSP00000361143.1",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372073.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "ENST00000464177.2",
"protein_id": "ENSP00000520920.1",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464177.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "ENST00000896192.1",
"protein_id": "ENSP00000566251.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896192.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "ENST00000896193.1",
"protein_id": "ENSP00000566252.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896193.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "ENST00000956907.1",
"protein_id": "ENSP00000626966.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956907.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "NM_001410717.1",
"protein_id": "NP_001397646.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 634,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410717.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "ENST00000288381.4",
"protein_id": "ENSP00000288381.4",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 634,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288381.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "ENST00000896194.1",
"protein_id": "ENSP00000566253.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 634,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896194.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Trp124Arg",
"transcript": "NM_001353850.2",
"protein_id": "NP_001340779.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 170,
"cds_start": 370,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353850.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Trp124Arg",
"transcript": "NM_001353851.2",
"protein_id": "NP_001340780.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 170,
"cds_start": 370,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353851.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.304T>C",
"hgvs_p": "p.Trp102Arg",
"transcript": "NM_017698.3",
"protein_id": "NP_060168.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 148,
"cds_start": 304,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017698.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.304T>C",
"hgvs_p": "p.Trp102Arg",
"transcript": "ENST00000372072.7",
"protein_id": "ENSP00000384075.2",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 148,
"cds_start": 304,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372072.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "XM_005262205.5",
"protein_id": "XP_005262262.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262205.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.751T>C",
"hgvs_p": "p.Trp251Arg",
"transcript": "XM_047442565.1",
"protein_id": "XP_047298521.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 751,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442565.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Trp212Arg",
"transcript": "XM_047442566.1",
"protein_id": "XP_047298522.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 634,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442566.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_005262208.6",
"protein_id": "XP_005262265.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 195,
"cds_start": 445,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262208.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Trp149Arg",
"transcript": "XM_047442568.1",
"protein_id": "XP_047298524.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 195,
"cds_start": 445,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442568.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Trp132Arg",
"transcript": "XM_017029894.3",
"protein_id": "XP_016885383.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 178,
"cds_start": 394,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029894.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM164",
"gene_hgnc_id": 26217,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Trp124Arg",
"transcript": "XM_017029899.2",
"protein_id": "XP_016885388.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 170,
"cds_start": 370,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029899.2"
},
{
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],
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"hom_count_reference_population": 3,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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{
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"verdict": "Likely_benign",
"transcript": "NM_032227.4",
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"effects": [
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"inheritance_mode": "",
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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
}