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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: 11-58955266-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=58955266&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 58955266,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_080661.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389712.2",
"protein_id": "NP_001376641.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000532726.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389712.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "ENST00000532726.6",
"protein_id": "ENSP00000436116.2",
"transcript_support_level": 3,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001389712.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532726.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "ENST00000317391.8",
"protein_id": "ENSP00000322223.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317391.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "ENST00000612196.1",
"protein_id": "ENSP00000479741.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "n.*417C>G",
"hgvs_p": null,
"transcript": "ENST00000527708.5",
"protein_id": "ENSP00000434757.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527708.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "n.*417C>G",
"hgvs_p": null,
"transcript": "ENST00000527708.5",
"protein_id": "ENSP00000434757.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527708.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.497C>G",
"hgvs_p": "p.Thr166Arg",
"transcript": "NM_080661.6",
"protein_id": "NP_542392.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 333,
"cds_start": 497,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080661.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.497C>G",
"hgvs_p": "p.Thr166Arg",
"transcript": "ENST00000300079.9",
"protein_id": "ENSP00000300079.5",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 333,
"cds_start": 497,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300079.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.473C>G",
"hgvs_p": "p.Thr158Arg",
"transcript": "ENST00000689150.1",
"protein_id": "ENSP00000508694.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 325,
"cds_start": 473,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689150.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001220494.4",
"protein_id": "NP_001207423.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220494.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001220496.4",
"protein_id": "NP_001207425.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220496.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001354699.4",
"protein_id": "NP_001341628.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354699.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389711.2",
"protein_id": "NP_001376640.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389711.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389713.2",
"protein_id": "NP_001376642.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389713.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389714.2",
"protein_id": "NP_001376643.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389714.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389715.2",
"protein_id": "NP_001376644.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389715.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389716.2",
"protein_id": "NP_001376645.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389716.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "NM_001389717.2",
"protein_id": "NP_001376646.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 302,
"cds_start": 404,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389717.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Thr94Arg",
"transcript": "NM_001389718.2",
"protein_id": "NP_001376647.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 261,
"cds_start": 281,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389718.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Thr94Arg",
"transcript": "ENST00000685442.1",
"protein_id": "ENSP00000510029.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 261,
"cds_start": 281,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685442.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.473C>G",
"hgvs_p": "p.Thr158Arg",
"transcript": "ENST00000526351.5",
"protein_id": "ENSP00000434652.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 172,
"cds_start": 473,
"cds_end": null,
"cds_length": 520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526351.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYATL1",
"gene_hgnc_id": 30519,
"hgvs_c": "c.473C>G",
"hgvs_p": "p.Thr158Arg",
"transcript": "XM_011545354.3",
"protein_id": "XP_011543656.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 325,
"cds_start": 473,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545354.3"
},
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}