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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: 11-617533-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=617533&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 617533,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021924.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "NM_021924.5",
"protein_id": "NP_068743.3",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 845,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397542.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021924.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "ENST00000397542.7",
"protein_id": "ENSP00000380676.2",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 845,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021924.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397542.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Gly592Ser",
"transcript": "ENST00000349570.11",
"protein_id": "ENSP00000345726.7",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 651,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349570.11"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2440G>A",
"hgvs_p": "p.Gly814Ser",
"transcript": "ENST00000872876.1",
"protein_id": "ENSP00000542935.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 873,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872876.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2422G>A",
"hgvs_p": "p.Gly808Ser",
"transcript": "ENST00000872874.1",
"protein_id": "ENSP00000542933.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 867,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872874.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2407G>A",
"hgvs_p": "p.Gly803Ser",
"transcript": "ENST00000872883.1",
"protein_id": "ENSP00000542942.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 862,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872883.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "ENST00000674088.1",
"protein_id": "ENSP00000501074.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 845,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674088.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Gly784Ser",
"transcript": "ENST00000872868.1",
"protein_id": "ENSP00000542927.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 843,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872868.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Gly783Ser",
"transcript": "ENST00000872880.1",
"protein_id": "ENSP00000542939.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 842,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872880.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Gly783Ser",
"transcript": "ENST00000872884.1",
"protein_id": "ENSP00000542943.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 842,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872884.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Gly780Ser",
"transcript": "NM_001171968.3",
"protein_id": "NP_001165439.2",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 839,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171968.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Gly780Ser",
"transcript": "ENST00000358353.8",
"protein_id": "ENSP00000351118.4",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 839,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358353.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2332G>A",
"hgvs_p": "p.Gly778Ser",
"transcript": "ENST00000872873.1",
"protein_id": "ENSP00000542932.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 837,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872873.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Gly772Ser",
"transcript": "ENST00000872877.1",
"protein_id": "ENSP00000542936.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 831,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872877.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Gly755Ser",
"transcript": "ENST00000872864.1",
"protein_id": "ENSP00000542923.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 814,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872864.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Gly749Ser",
"transcript": "ENST00000872866.1",
"protein_id": "ENSP00000542925.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 808,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872866.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2242G>A",
"hgvs_p": "p.Gly748Ser",
"transcript": "ENST00000872867.1",
"protein_id": "ENSP00000542926.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 807,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872867.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2233G>A",
"hgvs_p": "p.Gly745Ser",
"transcript": "ENST00000872881.1",
"protein_id": "ENSP00000542940.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 804,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872881.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2224G>A",
"hgvs_p": "p.Gly742Ser",
"transcript": "ENST00000872872.1",
"protein_id": "ENSP00000542931.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 801,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872872.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Gly721Ser",
"transcript": "ENST00000872865.1",
"protein_id": "ENSP00000542924.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 780,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872865.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Gly717Ser",
"transcript": "ENST00000954966.1",
"protein_id": "ENSP00000625025.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 776,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954966.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR5",
"gene_hgnc_id": 7521,
"hgvs_c": "c.2047G>A",
"hgvs_p": "p.Gly683Ser",
"transcript": "ENST00000872875.1",
"protein_id": "ENSP00000542934.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 742,
"cds_start": 2047,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}