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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: 2-20740168-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=20740168&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 20740168,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021925.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "NM_021925.4",
"protein_id": "NP_068744.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 325,
"cds_start": 506,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000237822.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021925.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000237822.8",
"protein_id": "ENSP00000237822.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 325,
"cds_start": 506,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021925.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237822.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000911673.1",
"protein_id": "ENSP00000581732.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 376,
"cds_start": 506,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911673.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000381090.7",
"protein_id": "ENSP00000370480.3",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 370,
"cds_start": 506,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381090.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000911672.1",
"protein_id": "ENSP00000581731.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 325,
"cds_start": 506,
"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": "ENST00000911672.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000943495.1",
"protein_id": "ENSP00000613554.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 325,
"cds_start": 506,
"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": "ENST00000943495.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "NM_001282719.2",
"protein_id": "NP_001269648.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 283,
"cds_start": 380,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282719.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "ENST00000435420.6",
"protein_id": "ENSP00000388635.3",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 283,
"cds_start": 380,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435420.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001282720.2",
"protein_id": "NP_001269649.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 277,
"cds_start": 362,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282720.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000626491.2",
"protein_id": "ENSP00000487592.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 277,
"cds_start": 362,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626491.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000403006.6",
"protein_id": "ENSP00000384267.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 240,
"cds_start": 116,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403006.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_001282721.2",
"protein_id": "NP_001269650.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 195,
"cds_start": 116,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282721.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_001282722.2",
"protein_id": "NP_001269651.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 195,
"cds_start": 116,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282722.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000541941.5",
"protein_id": "ENSP00000440570.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 195,
"cds_start": 116,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541941.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000619656.4",
"protein_id": "ENSP00000483067.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 195,
"cds_start": 116,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619656.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000412261.5",
"protein_id": "ENSP00000400910.1",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 158,
"cds_start": 362,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412261.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000432947.1",
"protein_id": "ENSP00000396911.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 129,
"cds_start": 116,
"cds_end": null,
"cds_length": 391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432947.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "XM_011533014.3",
"protein_id": "XP_011531316.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 331,
"cds_start": 524,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533014.3"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.468+34642G>A",
"hgvs_p": null,
"transcript": "NM_001282723.2",
"protein_id": "NP_001269652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282723.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.468+34642G>A",
"hgvs_p": null,
"transcript": "ENST00000440866.6",
"protein_id": "ENSP00000400340.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440866.6"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.342+34642G>A",
"hgvs_p": null,
"transcript": "NM_001282724.2",
"protein_id": "NP_001269653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282724.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDAH",
"gene_hgnc_id": 26145,
"hgvs_c": "c.486+34642G>A",
"hgvs_p": null,
"transcript": "XM_047445379.1",
"protein_id": "XP_047301335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445379.1"
},
{
"aa_ref": null,
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}