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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: 13-23375113-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23375113&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23375113,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000382292.9",
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4579,
"cds_start": -4,
"cds_end": null,
"cds_length": 13740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4579,
"cds_start": -4,
"cds_end": null,
"cds_length": 13740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "NM_014363.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000455470.6",
"protein_id": "ENSP00000406565.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4588,
"cds_start": -4,
"cds_end": null,
"cds_length": 13767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4588,
"cds_start": -4,
"cds_end": null,
"cds_length": 13767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.-183+6C>T",
"hgvs_p": null,
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4432,
"cds_start": -4,
"cds_end": null,
"cds_length": 13299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.-1992+6C>T",
"hgvs_p": null,
"transcript": "ENST00000402364.1",
"protein_id": "ENSP00000385844.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 3829,
"cds_start": -4,
"cds_end": null,
"cds_length": 11490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.162+6C>T",
"hgvs_p": null,
"transcript": "ENST00000683270.1",
"protein_id": "ENSP00000507624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2170,
"cds_start": -4,
"cds_end": null,
"cds_length": 6513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000684385.1",
"protein_id": "ENSP00000507855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000683680.1",
"protein_id": "ENSP00000507223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000683489.1",
"protein_id": "ENSP00000508403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.162+6C>T",
"hgvs_p": null,
"transcript": "ENST00000684163.1",
"protein_id": "ENSP00000508262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
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"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000423156.2",
"protein_id": "ENSP00000390925.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
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"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.162+6C>T",
"hgvs_p": null,
"transcript": "ENST00000683367.1",
"protein_id": "ENSP00000507780.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000682775.1",
"protein_id": "ENSP00000508399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
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"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000683210.1",
"protein_id": "ENSP00000506739.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000684497.1",
"protein_id": "ENSP00000507057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
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"cds_length": 2217,
"cdna_start": null,
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"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.208+6C>T",
"hgvs_p": null,
"transcript": "ENST00000682547.1",
"protein_id": "ENSP00000507735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 278,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "n.744+6C>T",
"hgvs_p": null,
"transcript": "ENST00000682244.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "n.309+6C>T",
"hgvs_p": null,
"transcript": "ENST00000683154.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "n.288+6C>T",
"hgvs_p": null,
"transcript": "ENST00000684053.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "n.171+6C>T",
"hgvs_p": null,
"transcript": "ENST00000684325.1",
"protein_id": "ENSP00000508121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|Charlevoix-Saguenay spastic ataxia|not provided|Spastic paraplegia",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
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}