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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: 11-45923512-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45923512&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45923512,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152312.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "NM_001300721.2",
"protein_id": "NP_001287650.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401752.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300721.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000401752.6",
"protein_id": "ENSP00000385235.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300721.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401752.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000325468.9",
"protein_id": "ENSP00000324570.5",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325468.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000861591.1",
"protein_id": "ENSP00000531650.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 737,
"cds_start": 325,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861591.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000861590.1",
"protein_id": "ENSP00000531649.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 736,
"cds_start": 325,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861590.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000861593.1",
"protein_id": "ENSP00000531652.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 736,
"cds_start": 325,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861593.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926373.1",
"protein_id": "ENSP00000596432.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 736,
"cds_start": 325,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926373.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Ser123Cys",
"transcript": "ENST00000926377.1",
"protein_id": "ENSP00000596436.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 735,
"cds_start": 367,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926377.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "NM_152312.5",
"protein_id": "NP_689525.3",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152312.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000531526.5",
"protein_id": "ENSP00000432869.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531526.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000861589.1",
"protein_id": "ENSP00000531648.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861589.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926368.1",
"protein_id": "ENSP00000596427.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 721,
"cds_start": 325,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926368.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926370.1",
"protein_id": "ENSP00000596429.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 719,
"cds_start": 325,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926370.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000861592.1",
"protein_id": "ENSP00000531651.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 718,
"cds_start": 325,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861592.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926378.1",
"protein_id": "ENSP00000596437.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 718,
"cds_start": 325,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926378.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926379.1",
"protein_id": "ENSP00000596438.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 713,
"cds_start": 325,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926379.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.367A>T",
"hgvs_p": "p.Ser123Cys",
"transcript": "ENST00000926381.1",
"protein_id": "ENSP00000596440.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 712,
"cds_start": 367,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926381.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926369.1",
"protein_id": "ENSP00000596428.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 698,
"cds_start": 325,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926369.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ser78Cys",
"transcript": "NM_001300722.2",
"protein_id": "NP_001287651.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 690,
"cds_start": 232,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300722.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Ser78Cys",
"transcript": "ENST00000529052.5",
"protein_id": "ENSP00000431932.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 690,
"cds_start": 232,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529052.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "ENST00000926372.1",
"protein_id": "ENSP00000596431.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 686,
"cds_start": 325,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926372.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.325A>T",
"hgvs_p": "p.Ser109Cys",
"transcript": "XM_047426344.1",
"protein_id": "XP_047282300.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 761,
"cds_start": 325,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
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