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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: 13-23338034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23338034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23338034,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000382292.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5842G>A",
"hgvs_p": "p.Asp1948Asn",
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 4579,
"cds_start": 5842,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 6431,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5842G>A",
"hgvs_p": "p.Asp1948Asn",
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": 1948,
"aa_end": null,
"aa_length": 4579,
"cds_start": 5842,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 6431,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2431+3411G>A",
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5869G>A",
"hgvs_p": "p.Asp1957Asn",
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 4588,
"cds_start": 5869,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 6458,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5869G>A",
"hgvs_p": "p.Asp1957Asn",
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 4588,
"cds_start": 5869,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 6508,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5401G>A",
"hgvs_p": "p.Asp1801Asn",
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": 1801,
"aa_end": null,
"aa_length": 4432,
"cds_start": 5401,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 5891,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.3592G>A",
"hgvs_p": "p.Asp1198Asn",
"transcript": "ENST00000402364.1",
"protein_id": "ENSP00000385844.1",
"transcript_support_level": 2,
"aa_start": 1198,
"aa_end": null,
"aa_length": 3829,
"cds_start": 3592,
"cds_end": null,
"cds_length": 11490,
"cdna_start": 5926,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5833G>A",
"hgvs_p": "p.Asp1945Asn",
"transcript": "ENST00000683270.1",
"protein_id": "ENSP00000507624.1",
"transcript_support_level": null,
"aa_start": 1945,
"aa_end": null,
"aa_length": 2170,
"cds_start": 5833,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 5962,
"cdna_end": null,
"cdna_length": 7009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5893G>A",
"hgvs_p": "p.Asp1965Asn",
"transcript": "XM_047430254.1",
"protein_id": "XP_047286210.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 4596,
"cds_start": 5893,
"cds_end": null,
"cds_length": 13791,
"cdna_start": 5930,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5869G>A",
"hgvs_p": "p.Asp1957Asn",
"transcript": "XM_024449337.2",
"protein_id": "XP_024305105.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 4588,
"cds_start": 5869,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 6679,
"cdna_end": null,
"cdna_length": 15883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5866G>A",
"hgvs_p": "p.Asp1956Asn",
"transcript": "XM_047430255.1",
"protein_id": "XP_047286211.1",
"transcript_support_level": null,
"aa_start": 1956,
"aa_end": null,
"aa_length": 4587,
"cds_start": 5866,
"cds_end": null,
"cds_length": 13764,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 15107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5860G>A",
"hgvs_p": "p.Asp1954Asn",
"transcript": "XM_011535039.3",
"protein_id": "XP_011533341.1",
"transcript_support_level": null,
"aa_start": 1954,
"aa_end": null,
"aa_length": 4585,
"cds_start": 5860,
"cds_end": null,
"cds_length": 13758,
"cdna_start": 6006,
"cdna_end": null,
"cdna_length": 15210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5842G>A",
"hgvs_p": "p.Asp1948Asn",
"transcript": "XM_047430256.1",
"protein_id": "XP_047286212.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 4579,
"cds_start": 5842,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 6652,
"cdna_end": null,
"cdna_length": 15856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5833G>A",
"hgvs_p": "p.Asp1945Asn",
"transcript": "XM_017020539.2",
"protein_id": "XP_016876028.1",
"transcript_support_level": null,
"aa_start": 1945,
"aa_end": null,
"aa_length": 4576,
"cds_start": 5833,
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"cdna_start": 5979,
"cdna_end": null,
"cdna_length": 15183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5722G>A",
"hgvs_p": "p.Asp1908Asn",
"transcript": "XM_047430257.1",
"protein_id": "XP_047286213.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 4539,
"cds_start": 5722,
"cds_end": null,
"cds_length": 13620,
"cdna_start": 6311,
"cdna_end": null,
"cdna_length": 15515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5722G>A",
"hgvs_p": "p.Asp1908Asn",
"transcript": "XM_047430258.1",
"protein_id": "XP_047286214.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 4539,
"cds_start": 5722,
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"cdna_start": 6532,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5719G>A",
"hgvs_p": "p.Asp1907Asn",
"transcript": "XM_047430259.1",
"protein_id": "XP_047286215.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 4538,
"cds_start": 5719,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 5756,
"cdna_end": null,
"cdna_length": 14960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5713G>A",
"hgvs_p": "p.Asp1905Asn",
"transcript": "XM_047430260.1",
"protein_id": "XP_047286216.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 4536,
"cds_start": 5713,
"cds_end": null,
"cds_length": 13611,
"cdna_start": 5859,
"cdna_end": null,
"cdna_length": 15063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5695G>A",
"hgvs_p": "p.Asp1899Asn",
"transcript": "XM_047430261.1",
"protein_id": "XP_047286217.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
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"cds_start": 5695,
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"cdna_start": 6284,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5695G>A",
"hgvs_p": "p.Asp1899Asn",
"transcript": "XM_047430262.1",
"protein_id": "XP_047286218.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 4530,
"cds_start": 5695,
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"cdna_start": 6505,
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"cdna_length": 15709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5686G>A",
"hgvs_p": "p.Asp1896Asn",
"transcript": "XM_047430263.1",
"protein_id": "XP_047286219.1",
"transcript_support_level": null,
"aa_start": 1896,
"aa_end": null,
"aa_length": 4527,
"cds_start": 5686,
"cds_end": null,
"cds_length": 13584,
"cdna_start": 5832,
"cdna_end": null,
"cdna_length": 15036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2221-8550G>A",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"clinvar_disease": "Charlevoix-Saguenay spastic ataxia,Spastic paraplegia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Charlevoix-Saguenay spastic ataxia|Spastic paraplegia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}