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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: 4-166792241-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=166792241&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 166792241,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016950.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "NM_001040159.2",
"protein_id": "NP_001035249.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 433,
"cds_start": 638,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357545.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040159.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000357545.9",
"protein_id": "ENSP00000350153.4",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 433,
"cds_start": 638,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040159.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357545.9"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.647G>T",
"hgvs_p": "p.Trp216Leu",
"transcript": "ENST00000502330.5",
"protein_id": "ENSP00000423606.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 436,
"cds_start": 647,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502330.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"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.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000512648.5",
"protein_id": "ENSP00000426177.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 313,
"cds_start": 638,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512648.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.647G>T",
"hgvs_p": "p.Trp216Leu",
"transcript": "NM_016950.3",
"protein_id": "NP_058646.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 436,
"cds_start": 647,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016950.3"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.647G>T",
"hgvs_p": "p.Trp216Leu",
"transcript": "ENST00000357154.7",
"protein_id": "ENSP00000349677.3",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 436,
"cds_start": 647,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357154.7"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.647G>T",
"hgvs_p": "p.Trp216Leu",
"transcript": "ENST00000506886.5",
"protein_id": "ENSP00000420920.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 436,
"cds_start": 647,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506886.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.647G>T",
"hgvs_p": "p.Trp216Leu",
"transcript": "ENST00000511531.5",
"protein_id": "ENSP00000423421.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 436,
"cds_start": 647,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511531.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "NM_001430594.1",
"protein_id": "NP_001417523.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 433,
"cds_start": 638,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001430594.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000504953.5",
"protein_id": "ENSP00000425570.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 433,
"cds_start": 638,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504953.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000511269.5",
"protein_id": "ENSP00000425502.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 433,
"cds_start": 638,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511269.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000874039.1",
"protein_id": "ENSP00000544098.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 431,
"cds_start": 638,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874039.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000874040.1",
"protein_id": "ENSP00000544099.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 412,
"cds_start": 638,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874040.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000874042.1",
"protein_id": "ENSP00000544101.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 410,
"cds_start": 638,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874042.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000943358.1",
"protein_id": "ENSP00000613417.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 387,
"cds_start": 638,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943358.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.494G>T",
"hgvs_p": "p.Trp165Leu",
"transcript": "NM_001204352.2",
"protein_id": "NP_001191281.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 385,
"cds_start": 494,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204352.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.494G>T",
"hgvs_p": "p.Trp165Leu",
"transcript": "ENST00000421836.6",
"protein_id": "ENSP00000411344.2",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 385,
"cds_start": 494,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421836.6"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Trp213Leu",
"transcript": "ENST00000874041.1",
"protein_id": "ENSP00000544100.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 359,
"cds_start": 638,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874041.1"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.371G>T",
"hgvs_p": "p.Trp124Leu",
"transcript": "NM_001204354.2",
"protein_id": "NP_001191283.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 344,
"cds_start": 371,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204354.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.371G>T",
"hgvs_p": "p.Trp124Leu",
"transcript": "ENST00000535728.5",
"protein_id": "ENSP00000441396.2",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 344,
"cds_start": 371,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535728.5"
},
{
"aa_ref": "W",
"aa_alt": "L",
"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": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.359G>T",
"hgvs_p": "p.Trp120Leu",
"transcript": "NM_001204355.2",
"protein_id": "NP_001191284.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 340,
"cds_start": 359,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204355.2"
},
{
"aa_ref": "W",
"aa_alt": "L",
"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": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.353G>T",
"hgvs_p": "p.Trp118Leu",
"transcript": "NM_001251967.2",
"protein_id": "NP_001238896.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 338,
"cds_start": 353,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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