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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: 7-128993832-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128993832&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128993832,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001382216.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "NM_012470.4",
"protein_id": "NP_036602.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 923,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265388.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012470.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000265388.10",
"protein_id": "ENSP00000265388.5",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 923,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012470.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265388.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000471234.5",
"protein_id": "ENSP00000418646.1",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 859,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471234.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Ile348Thr",
"transcript": "ENST00000482320.5",
"protein_id": "ENSP00000420089.1",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 857,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482320.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "NM_001382216.1",
"protein_id": "NP_001369145.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 957,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382216.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000471166.1",
"protein_id": "ENSP00000418267.1",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 957,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471166.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000627585.2",
"protein_id": "ENSP00000487231.1",
"transcript_support_level": 2,
"aa_start": 414,
"aa_end": null,
"aa_length": 957,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627585.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1322T>C",
"hgvs_p": "p.Ile441Thr",
"transcript": "NM_001382217.1",
"protein_id": "NP_001369146.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 950,
"cds_start": 1322,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382217.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1322T>C",
"hgvs_p": "p.Ile441Thr",
"transcript": "ENST00000862647.1",
"protein_id": "ENSP00000532706.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 950,
"cds_start": 1322,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862647.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1244T>C",
"hgvs_p": "p.Ile415Thr",
"transcript": "ENST00000929007.1",
"protein_id": "ENSP00000599066.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 924,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929007.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000862641.1",
"protein_id": "ENSP00000532700.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 923,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862641.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000862649.1",
"protein_id": "ENSP00000532708.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 923,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862649.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000929011.1",
"protein_id": "ENSP00000599069.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 923,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929011.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000961761.1",
"protein_id": "ENSP00000631820.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 923,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961761.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000862648.1",
"protein_id": "ENSP00000532707.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 921,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862648.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000862643.1",
"protein_id": "ENSP00000532702.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 915,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862643.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "NM_001382218.1",
"protein_id": "NP_001369147.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 909,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382218.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1124T>C",
"hgvs_p": "p.Ile375Thr",
"transcript": "ENST00000862651.1",
"protein_id": "ENSP00000532710.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 884,
"cds_start": 1124,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862651.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "ENST00000961760.1",
"protein_id": "ENSP00000631819.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 881,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961760.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Ile414Thr",
"transcript": "NM_001382220.1",
"protein_id": "NP_001369149.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 876,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382220.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Ile366Thr",
"transcript": "NM_001382221.1",
"protein_id": "NP_001369150.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 875,
"cds_start": 1097,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382221.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Ile366Thr",
"transcript": "ENST00000929008.1",
"protein_id": "ENSP00000599067.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 875,
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"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
"transcript": "NM_001382216.1",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "Autosomal dominant limb-girdle muscular dystrophy type 1F",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal dominant limb-girdle muscular dystrophy type 1F",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}