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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: 13-23335885-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23335885&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23335885,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000382292.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"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.7991G>T",
"hgvs_p": "p.Gly2664Val",
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": 2664,
"aa_end": null,
"aa_length": 4579,
"cds_start": 7991,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 8580,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7991G>T",
"hgvs_p": "p.Gly2664Val",
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": 2664,
"aa_end": null,
"aa_length": 4579,
"cds_start": 7991,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 8580,
"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+5560G>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": "G",
"aa_alt": "V",
"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.8018G>T",
"hgvs_p": "p.Gly2673Val",
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": 2673,
"aa_end": null,
"aa_length": 4588,
"cds_start": 8018,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 8607,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.8018G>T",
"hgvs_p": "p.Gly2673Val",
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": 2673,
"aa_end": null,
"aa_length": 4588,
"cds_start": 8018,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 8657,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7550G>T",
"hgvs_p": "p.Gly2517Val",
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": 2517,
"aa_end": null,
"aa_length": 4432,
"cds_start": 7550,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 8040,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.5741G>T",
"hgvs_p": "p.Gly1914Val",
"transcript": "ENST00000402364.1",
"protein_id": "ENSP00000385844.1",
"transcript_support_level": 2,
"aa_start": 1914,
"aa_end": null,
"aa_length": 3829,
"cds_start": 5741,
"cds_end": null,
"cds_length": 11490,
"cdna_start": 8075,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.8042G>T",
"hgvs_p": "p.Gly2681Val",
"transcript": "XM_047430254.1",
"protein_id": "XP_047286210.1",
"transcript_support_level": null,
"aa_start": 2681,
"aa_end": null,
"aa_length": 4596,
"cds_start": 8042,
"cds_end": null,
"cds_length": 13791,
"cdna_start": 8079,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.8018G>T",
"hgvs_p": "p.Gly2673Val",
"transcript": "XM_024449337.2",
"protein_id": "XP_024305105.1",
"transcript_support_level": null,
"aa_start": 2673,
"aa_end": null,
"aa_length": 4588,
"cds_start": 8018,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 8828,
"cdna_end": null,
"cdna_length": 15883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.8015G>T",
"hgvs_p": "p.Gly2672Val",
"transcript": "XM_047430255.1",
"protein_id": "XP_047286211.1",
"transcript_support_level": null,
"aa_start": 2672,
"aa_end": null,
"aa_length": 4587,
"cds_start": 8015,
"cds_end": null,
"cds_length": 13764,
"cdna_start": 8052,
"cdna_end": null,
"cdna_length": 15107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.8009G>T",
"hgvs_p": "p.Gly2670Val",
"transcript": "XM_011535039.3",
"protein_id": "XP_011533341.1",
"transcript_support_level": null,
"aa_start": 2670,
"aa_end": null,
"aa_length": 4585,
"cds_start": 8009,
"cds_end": null,
"cds_length": 13758,
"cdna_start": 8155,
"cdna_end": null,
"cdna_length": 15210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7991G>T",
"hgvs_p": "p.Gly2664Val",
"transcript": "XM_047430256.1",
"protein_id": "XP_047286212.1",
"transcript_support_level": null,
"aa_start": 2664,
"aa_end": null,
"aa_length": 4579,
"cds_start": 7991,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 8801,
"cdna_end": null,
"cdna_length": 15856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7982G>T",
"hgvs_p": "p.Gly2661Val",
"transcript": "XM_017020539.2",
"protein_id": "XP_016876028.1",
"transcript_support_level": null,
"aa_start": 2661,
"aa_end": null,
"aa_length": 4576,
"cds_start": 7982,
"cds_end": null,
"cds_length": 13731,
"cdna_start": 8128,
"cdna_end": null,
"cdna_length": 15183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7871G>T",
"hgvs_p": "p.Gly2624Val",
"transcript": "XM_047430257.1",
"protein_id": "XP_047286213.1",
"transcript_support_level": null,
"aa_start": 2624,
"aa_end": null,
"aa_length": 4539,
"cds_start": 7871,
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"cdna_start": 8460,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"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.7871G>T",
"hgvs_p": "p.Gly2624Val",
"transcript": "XM_047430258.1",
"protein_id": "XP_047286214.1",
"transcript_support_level": null,
"aa_start": 2624,
"aa_end": null,
"aa_length": 4539,
"cds_start": 7871,
"cds_end": null,
"cds_length": 13620,
"cdna_start": 8681,
"cdna_end": null,
"cdna_length": 15736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7868G>T",
"hgvs_p": "p.Gly2623Val",
"transcript": "XM_047430259.1",
"protein_id": "XP_047286215.1",
"transcript_support_level": null,
"aa_start": 2623,
"aa_end": null,
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"cds_start": 7868,
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"cdna_start": 7905,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7862G>T",
"hgvs_p": "p.Gly2621Val",
"transcript": "XM_047430260.1",
"protein_id": "XP_047286216.1",
"transcript_support_level": null,
"aa_start": 2621,
"aa_end": null,
"aa_length": 4536,
"cds_start": 7862,
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"cds_length": 13611,
"cdna_start": 8008,
"cdna_end": null,
"cdna_length": 15063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7844G>T",
"hgvs_p": "p.Gly2615Val",
"transcript": "XM_047430261.1",
"protein_id": "XP_047286217.1",
"transcript_support_level": null,
"aa_start": 2615,
"aa_end": null,
"aa_length": 4530,
"cds_start": 7844,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 8433,
"cdna_end": null,
"cdna_length": 15488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7844G>T",
"hgvs_p": "p.Gly2615Val",
"transcript": "XM_047430262.1",
"protein_id": "XP_047286218.1",
"transcript_support_level": null,
"aa_start": 2615,
"aa_end": null,
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"cds_start": 7844,
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"cdna_start": 8654,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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.7835G>T",
"hgvs_p": "p.Gly2612Val",
"transcript": "XM_047430263.1",
"protein_id": "XP_047286219.1",
"transcript_support_level": null,
"aa_start": 2612,
"aa_end": null,
"aa_length": 4527,
"cds_start": 7835,
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"cdna_start": 7981,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6445+1537G>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": [
"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.2221-6401G>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": [
"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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}
],
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}