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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: 4-166737475-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=166737475&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 166737475,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016950.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "NM_001040159.2",
"protein_id": "NP_001035249.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 433,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "ENST00000357545.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040159.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "ENST00000357545.9",
"protein_id": "ENSP00000350153.4",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 433,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "NM_001040159.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357545.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "ENST00000502330.5",
"protein_id": "ENSP00000423606.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 436,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502330.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "NM_016950.3",
"protein_id": "NP_058646.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 436,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016950.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "ENST00000357154.7",
"protein_id": "ENSP00000349677.3",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 436,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357154.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "ENST00000506886.5",
"protein_id": "ENSP00000420920.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 436,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506886.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "ENST00000511531.5",
"protein_id": "ENSP00000423421.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 436,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511531.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "NM_001430594.1",
"protein_id": "NP_001417523.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 433,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001430594.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "ENST00000504953.5",
"protein_id": "ENSP00000425570.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 433,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504953.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "ENST00000511269.5",
"protein_id": "ENSP00000425502.1",
"transcript_support_level": 2,
"aa_start": 375,
"aa_end": null,
"aa_length": 433,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511269.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "ENST00000874039.1",
"protein_id": "ENSP00000544098.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 431,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874039.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000874040.1",
"protein_id": "ENSP00000544099.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 412,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874040.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000874042.1",
"protein_id": "ENSP00000544101.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 410,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874042.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "NM_001204356.2",
"protein_id": "NP_001191285.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 393,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204356.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000510741.5",
"protein_id": "ENSP00000426716.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 393,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510741.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.980C>T",
"hgvs_p": "p.Ala327Val",
"transcript": "NM_001204352.2",
"protein_id": "NP_001191281.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 385,
"cds_start": 980,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204352.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.980C>T",
"hgvs_p": "p.Ala327Val",
"transcript": "ENST00000421836.6",
"protein_id": "ENSP00000411344.2",
"transcript_support_level": 2,
"aa_start": 327,
"aa_end": null,
"aa_length": 385,
"cds_start": 980,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421836.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Ala301Val",
"transcript": "ENST00000874041.1",
"protein_id": "ENSP00000544100.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 359,
"cds_start": 902,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874041.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Ala286Val",
"transcript": "NM_001204354.2",
"protein_id": "NP_001191283.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 344,
"cds_start": 857,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204354.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Ala286Val",
"transcript": "ENST00000535728.5",
"protein_id": "ENSP00000441396.2",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 344,
"cds_start": 857,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535728.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.845C>T",
"hgvs_p": "p.Ala282Val",
"transcript": "NM_001204355.2",
"protein_id": "NP_001191284.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 340,
"cds_start": 845,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204355.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Ala280Val",
"transcript": "NM_001251967.2",
"protein_id": "NP_001238896.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 338,
"cds_start": 839,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 884,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}