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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: 7-128967398-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128967398&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128967398,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001382216.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2599-6A>G",
"hgvs_p": null,
"transcript": "NM_012470.4",
"protein_id": "NP_036602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": null,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "ENST00000265388.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012470.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2599-6A>G",
"hgvs_p": null,
"transcript": "ENST00000265388.10",
"protein_id": "ENSP00000265388.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": null,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "NM_012470.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265388.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2407-6A>G",
"hgvs_p": null,
"transcript": "ENST00000471234.5",
"protein_id": "ENSP00000418646.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": null,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471234.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2401-6A>G",
"hgvs_p": null,
"transcript": "ENST00000482320.5",
"protein_id": "ENSP00000420089.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": null,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482320.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2701-6A>G",
"hgvs_p": null,
"transcript": "NM_001382216.1",
"protein_id": "NP_001369145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2701-6A>G",
"hgvs_p": null,
"transcript": "ENST00000471166.1",
"protein_id": "ENSP00000418267.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2701-6A>G",
"hgvs_p": null,
"transcript": "ENST00000627585.2",
"protein_id": "ENSP00000487231.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627585.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2680-6A>G",
"hgvs_p": null,
"transcript": "NM_001382217.1",
"protein_id": "NP_001369146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2680-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862647.1",
"protein_id": "ENSP00000532706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2602-6A>G",
"hgvs_p": null,
"transcript": "ENST00000929007.1",
"protein_id": "ENSP00000599066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
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"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2599-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862641.1",
"protein_id": "ENSP00000532700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2599-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862649.1",
"protein_id": "ENSP00000532708.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
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"gene_symbol": "TNPO3",
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"hgvs_c": "c.2599-6A>G",
"hgvs_p": null,
"transcript": "ENST00000929011.1",
"protein_id": "ENSP00000599069.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 20,
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"gene_symbol": "TNPO3",
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"hgvs_c": "c.2599-6A>G",
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"transcript": "ENST00000961761.1",
"protein_id": "ENSP00000631820.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961761.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2593-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862648.1",
"protein_id": "ENSP00000532707.1",
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"feature": "ENST00000862648.1"
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 20,
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"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2575-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862643.1",
"protein_id": "ENSP00000532702.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000862643.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2599-6A>G",
"hgvs_p": null,
"transcript": "NM_001382218.1",
"protein_id": "NP_001369147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001382218.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2509-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862652.1",
"protein_id": "ENSP00000532711.1",
"transcript_support_level": null,
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"feature": "ENST00000862652.1"
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2491-6A>G",
"hgvs_p": null,
"transcript": "NM_001382219.1",
"protein_id": "NP_001369148.1",
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"biotype": "protein_coding",
"feature": "NM_001382219.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 19,
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"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2491-6A>G",
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"transcript": "ENST00000862650.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2482-6A>G",
"hgvs_p": null,
"transcript": "ENST00000862651.1",
"protein_id": "ENSP00000532710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": null,
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"cds_length": 2655,
"cdna_start": null,
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"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2473-6A>G",
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"phylop100way_prediction": "Benign",
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{
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Autosomal dominant limb-girdle muscular dystrophy type 1F|TNPO3-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}