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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: 11-47413435-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47413435&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47413435,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000362021.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "NM_001128225.3",
"protein_id": "NP_001121697.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 371,
"cds_start": 573,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": "ENST00000362021.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "ENST00000362021.9",
"protein_id": "ENSP00000354689.4",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 371,
"cds_start": 573,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": "NM_001128225.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "ENST00000354884.8",
"protein_id": "ENSP00000346956.4",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 364,
"cds_start": 573,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "NM_001441271.1",
"protein_id": "NP_001428200.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 364,
"cds_start": 573,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "NM_152264.5",
"protein_id": "NP_689477.3",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 364,
"cds_start": 573,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "NM_001441273.1",
"protein_id": "NP_001428202.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 334,
"cds_start": 573,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "NM_001330245.2",
"protein_id": "NP_001317174.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 325,
"cds_start": 573,
"cds_end": null,
"cds_length": 978,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "ENST00000533076.5",
"protein_id": "ENSP00000434290.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 325,
"cds_start": 573,
"cds_end": null,
"cds_length": 978,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "ENST00000524928.1",
"protein_id": "ENSP00000437186.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 321,
"cds_start": 573,
"cds_end": null,
"cds_length": 966,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "ENST00000526614.5",
"protein_id": "ENSP00000432499.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 247,
"cds_start": 573,
"cds_end": null,
"cds_length": 746,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"transcript": "XM_011520466.2",
"protein_id": "XP_011518768.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 386,
"cds_start": 618,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "XM_011520467.2",
"protein_id": "XP_011518769.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 371,
"cds_start": 573,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "XM_017018540.2",
"protein_id": "XP_016874029.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 364,
"cds_start": 573,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"transcript": "XM_006718384.3",
"protein_id": "XP_006718447.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 340,
"cds_start": 618,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"transcript": "XM_047427857.1",
"protein_id": "XP_047283813.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 310,
"cds_start": 618,
"cds_end": null,
"cds_length": 933,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"transcript": "XM_047427858.1",
"protein_id": "XP_047283814.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 304,
"cds_start": 618,
"cds_end": null,
"cds_length": 915,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "XM_047427859.1",
"protein_id": "XP_047283815.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 295,
"cds_start": 573,
"cds_end": null,
"cds_length": 888,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.573G>A",
"hgvs_p": "p.Ala191Ala",
"transcript": "XM_047427860.1",
"protein_id": "XP_047283816.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 289,
"cds_start": 573,
"cds_end": null,
"cds_length": 870,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.202G>A",
"hgvs_p": null,
"transcript": "ENST00000529740.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.839G>A",
"hgvs_p": null,
"transcript": "NR_134854.1",
"protein_id": null,
"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": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.654G>A",
"hgvs_p": null,
"transcript": "XR_007062524.1",
"protein_id": null,
"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": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.654G>A",
"hgvs_p": null,
"transcript": "XR_007062525.1",
"protein_id": null,
"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": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.656G>A",
"hgvs_p": null,
"transcript": "XR_428862.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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],
"clinvar_disease": " spondylocheirodysplastic type,Ehlers-Danlos syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Ehlers-Danlos syndrome, spondylocheirodysplastic type|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}