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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: 4-166737550-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=166737550&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 166737550,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016950.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"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.1049A>G",
"hgvs_p": "p.His350Arg",
"transcript": "NM_001040159.2",
"protein_id": "NP_001035249.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 433,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "ENST00000357545.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040159.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1049A>G",
"hgvs_p": "p.His350Arg",
"transcript": "ENST00000357545.9",
"protein_id": "ENSP00000350153.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 433,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "NM_001040159.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357545.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1058A>G",
"hgvs_p": "p.His353Arg",
"transcript": "ENST00000502330.5",
"protein_id": "ENSP00000423606.1",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 436,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502330.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1058A>G",
"hgvs_p": "p.His353Arg",
"transcript": "NM_016950.3",
"protein_id": "NP_058646.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 436,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016950.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1058A>G",
"hgvs_p": "p.His353Arg",
"transcript": "ENST00000357154.7",
"protein_id": "ENSP00000349677.3",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 436,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357154.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1058A>G",
"hgvs_p": "p.His353Arg",
"transcript": "ENST00000506886.5",
"protein_id": "ENSP00000420920.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 436,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506886.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1058A>G",
"hgvs_p": "p.His353Arg",
"transcript": "ENST00000511531.5",
"protein_id": "ENSP00000423421.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 436,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511531.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1049A>G",
"hgvs_p": "p.His350Arg",
"transcript": "NM_001430594.1",
"protein_id": "NP_001417523.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 433,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001430594.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1049A>G",
"hgvs_p": "p.His350Arg",
"transcript": "ENST00000504953.5",
"protein_id": "ENSP00000425570.1",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 433,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504953.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1049A>G",
"hgvs_p": "p.His350Arg",
"transcript": "ENST00000511269.5",
"protein_id": "ENSP00000425502.1",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 433,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511269.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.1049A>G",
"hgvs_p": "p.His350Arg",
"transcript": "ENST00000874039.1",
"protein_id": "ENSP00000544098.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 431,
"cds_start": 1049,
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"cdna_start": 1204,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000874039.1"
},
{
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"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.986A>G",
"hgvs_p": "p.His329Arg",
"transcript": "ENST00000874040.1",
"protein_id": "ENSP00000544099.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 412,
"cds_start": 986,
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"cdna_start": 1126,
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"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874040.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.His329Arg",
"transcript": "ENST00000874042.1",
"protein_id": "ENSP00000544101.1",
"transcript_support_level": null,
"aa_start": 329,
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"aa_length": 410,
"cds_start": 986,
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"cdna_start": 1031,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "SPOCK3",
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"transcript": "NM_001204356.2",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001204356.2"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.His310Arg",
"transcript": "ENST00000510741.5",
"protein_id": "ENSP00000426716.1",
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"feature": "ENST00000510741.5"
},
{
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],
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"intron_rank": null,
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"gene_symbol": "SPOCK3",
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"hgvs_c": "c.905A>G",
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"transcript": "NM_001204352.2",
"protein_id": "NP_001191281.1",
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"cds_start": 905,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001204352.2"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.905A>G",
"hgvs_p": "p.His302Arg",
"transcript": "ENST00000421836.6",
"protein_id": "ENSP00000411344.2",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 385,
"cds_start": 905,
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"cdna_start": 1271,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000421836.6"
},
{
"aa_ref": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.827A>G",
"hgvs_p": "p.His276Arg",
"transcript": "ENST00000874041.1",
"protein_id": "ENSP00000544100.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SPOCK3",
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"hgvs_p": "p.His261Arg",
"transcript": "NM_001204354.2",
"protein_id": "NP_001191283.1",
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"biotype": "protein_coding",
"feature": "NM_001204354.2"
},
{
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"protein_coding": true,
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SPOCK3",
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"hgvs_p": "p.His261Arg",
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"biotype": "protein_coding",
"feature": "ENST00000535728.5"
},
{
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"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.770A>G",
"hgvs_p": "p.His257Arg",
"transcript": "NM_001204355.2",
"protein_id": "NP_001191284.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 340,
"cds_start": 770,
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"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204355.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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.764A>G",
"hgvs_p": "p.His255Arg",
"transcript": "NM_001251967.2",
"protein_id": "NP_001238896.1",
"transcript_support_level": null,
"aa_start": 255,
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"aa_length": 338,
"cds_start": 764,
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"cds_length": 1017,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}