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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: 10-133281391-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133281391&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133281391,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001256617.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "NM_006659.4",
"protein_id": "NP_006650.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252936.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006659.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000252936.8",
"protein_id": "ENSP00000252936.3",
"transcript_support_level": 2,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006659.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252936.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys",
"transcript": "ENST00000543663.6",
"protein_id": "ENSP00000446093.1",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 930,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543663.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys",
"transcript": "NM_001256617.2",
"protein_id": "NP_001243546.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 930,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256617.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2524G>A",
"hgvs_p": "p.Glu842Lys",
"transcript": "ENST00000682161.1",
"protein_id": "ENSP00000507509.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 925,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682161.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2500G>A",
"hgvs_p": "p.Glu834Lys",
"transcript": "ENST00000968924.1",
"protein_id": "ENSP00000638983.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 917,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968924.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2497G>A",
"hgvs_p": "p.Glu833Lys",
"transcript": "ENST00000968930.1",
"protein_id": "ENSP00000638989.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 916,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968930.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2488G>A",
"hgvs_p": "p.Glu830Lys",
"transcript": "ENST00000682905.1",
"protein_id": "ENSP00000507305.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 913,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682905.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Glu824Lys",
"transcript": "ENST00000968925.1",
"protein_id": "ENSP00000638984.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 907,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968925.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2467G>A",
"hgvs_p": "p.Glu823Lys",
"transcript": "ENST00000855454.1",
"protein_id": "ENSP00000525513.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 906,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855454.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000682123.1",
"protein_id": "ENSP00000507610.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682123.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000682515.1",
"protein_id": "ENSP00000506731.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682515.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000683612.1",
"protein_id": "ENSP00000507482.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683612.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000855457.1",
"protein_id": "ENSP00000525516.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855457.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000855459.1",
"protein_id": "ENSP00000525518.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855459.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000855460.1",
"protein_id": "ENSP00000525519.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855460.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000916725.1",
"protein_id": "ENSP00000586784.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916725.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000968923.1",
"protein_id": "ENSP00000638982.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 902,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968923.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Glu808Lys",
"transcript": "ENST00000683014.1",
"protein_id": "ENSP00000507631.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 891,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683014.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Glu802Lys",
"transcript": "ENST00000916723.1",
"protein_id": "ENSP00000586782.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 885,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916723.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Glu802Lys",
"transcript": "ENST00000968927.1",
"protein_id": "ENSP00000638986.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 885,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968927.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.2374G>A",
"hgvs_p": "p.Glu792Lys",
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],
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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": 0.188,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.816,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001256617.2",
"gene_symbol": "TUBGCP2",
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"effects": [
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"inheritance_mode": "AR",
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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
}