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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: 17-39658439-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39658439&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39658439,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006804.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "NM_006804.4",
"protein_id": "NP_006795.3",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336308.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006804.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000336308.10",
"protein_id": "ENSP00000337446.5",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006804.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336308.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "ENST00000580611.5",
"protein_id": "ENSP00000463613.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 475,
"cds_start": 386,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580611.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Pro168Ser",
"transcript": "ENST00000936728.1",
"protein_id": "ENSP00000606787.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 462,
"cds_start": 502,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936728.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Pro151Ser",
"transcript": "ENST00000964921.1",
"protein_id": "ENSP00000634980.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 454,
"cds_start": 451,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964921.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908875.1",
"protein_id": "ENSP00000578934.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 452,
"cds_start": 464,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908875.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908889.1",
"protein_id": "ENSP00000578948.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 452,
"cds_start": 464,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908889.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Pro151Ser",
"transcript": "NM_001165937.2",
"protein_id": "NP_001159409.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 445,
"cds_start": 451,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165937.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Pro151Ser",
"transcript": "ENST00000544210.6",
"protein_id": "ENSP00000439869.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 445,
"cds_start": 451,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544210.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908879.1",
"protein_id": "ENSP00000578938.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908879.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908880.1",
"protein_id": "ENSP00000578939.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908880.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908881.1",
"protein_id": "ENSP00000578940.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908881.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908884.1",
"protein_id": "ENSP00000578943.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908884.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908885.1",
"protein_id": "ENSP00000578944.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908885.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908886.1",
"protein_id": "ENSP00000578945.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908886.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000908891.1",
"protein_id": "ENSP00000578950.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908891.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Pro151Ser",
"transcript": "ENST00000936730.1",
"protein_id": "ENSP00000606789.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 445,
"cds_start": 451,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936730.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000936732.1",
"protein_id": "ENSP00000606791.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936732.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000964919.1",
"protein_id": "ENSP00000634978.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964919.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000964920.1",
"protein_id": "ENSP00000634979.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964920.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000964922.1",
"protein_id": "ENSP00000634981.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 445,
"cds_start": 464,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964922.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000936731.1",
"protein_id": "ENSP00000606790.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 444,
"cds_start": 464,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936731.1"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}