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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: 5-140641943-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140641943&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140641943,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001300980.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "NM_018502.5",
"protein_id": "NP_060972.3",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 493,
"cds_start": 388,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394671.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018502.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000394671.8",
"protein_id": "ENSP00000378166.3",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 493,
"cds_start": 388,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018502.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394671.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000252100.6",
"protein_id": "ENSP00000252100.6",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 499,
"cds_start": 388,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252100.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "n.549C>T",
"hgvs_p": null,
"transcript": "ENST00000510336.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000510336.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "NM_001300980.2",
"protein_id": "NP_001287909.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 499,
"cds_start": 388,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300980.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000876842.1",
"protein_id": "ENSP00000546901.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 494,
"cds_start": 388,
"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": "ENST00000876842.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000934092.1",
"protein_id": "ENSP00000604151.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 492,
"cds_start": 388,
"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": "ENST00000934092.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000876840.1",
"protein_id": "ENSP00000546899.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 489,
"cds_start": 388,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876840.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000934091.1",
"protein_id": "ENSP00000604150.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 477,
"cds_start": 388,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934091.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000876843.1",
"protein_id": "ENSP00000546902.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 458,
"cds_start": 388,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876843.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000876841.1",
"protein_id": "ENSP00000546900.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 437,
"cds_start": 388,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876841.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp",
"transcript": "ENST00000513002.5",
"protein_id": "ENSP00000421613.2",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 56,
"cds_start": 61,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513002.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "XM_005268477.2",
"protein_id": "XP_005268534.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 494,
"cds_start": 388,
"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_005268477.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "XM_017009618.2",
"protein_id": "XP_016865107.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 443,
"cds_start": 388,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009618.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "XM_047417353.1",
"protein_id": "XP_047273309.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 437,
"cds_start": 388,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417353.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "XM_011537663.3",
"protein_id": "XP_011535965.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 406,
"cds_start": 388,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537663.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "XM_047417354.1",
"protein_id": "XP_047273310.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 400,
"cds_start": 388,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417354.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp",
"transcript": "XM_011537665.3",
"protein_id": "XP_011535967.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 61,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537665.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp",
"transcript": "XM_024446124.2",
"protein_id": "XP_024301892.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 61,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446124.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp",
"transcript": "XM_047417355.1",
"protein_id": "XP_047273311.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 61,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417355.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp",
"transcript": "XM_047417356.1",
"protein_id": "XP_047273312.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 61,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.-118+163C>T",
"hgvs_p": null,
"transcript": "NM_001300982.2",
"protein_id": "NP_001287911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300982.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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],
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"computational_score_selected": 0.323219895362854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001300980.2",
"gene_symbol": "TMCO6",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000510680.1",
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],
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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
}