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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: 21-29037384-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29037384&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29037384,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006447.3",
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "NM_006447.3",
"protein_id": "NP_006438.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399976.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006447.3"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000399976.7",
"protein_id": "ENSP00000382858.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006447.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399976.7"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000399975.7",
"protein_id": "ENSP00000382857.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 822,
"cds_start": 554,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399975.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"transcript": "ENST00000474835.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474835.5"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "NM_001032410.2",
"protein_id": "NP_001027582.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032410.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000334352.8",
"protein_id": "ENSP00000334808.4",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334352.8"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885882.1",
"protein_id": "ENSP00000555941.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885882.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885883.1",
"protein_id": "ENSP00000555942.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885883.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885887.1",
"protein_id": "ENSP00000555946.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885887.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885889.1",
"protein_id": "ENSP00000555948.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885889.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885890.1",
"protein_id": "ENSP00000555949.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885890.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885892.1",
"protein_id": "ENSP00000555951.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885892.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000885893.1",
"protein_id": "ENSP00000555952.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885893.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000928004.1",
"protein_id": "ENSP00000598063.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928004.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000928005.1",
"protein_id": "ENSP00000598064.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928005.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000952481.1",
"protein_id": "ENSP00000622540.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952481.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000952484.1",
"protein_id": "ENSP00000622543.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952484.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000952485.1",
"protein_id": "ENSP00000622544.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952485.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000952486.1",
"protein_id": "ENSP00000622545.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952486.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000952490.1",
"protein_id": "ENSP00000622549.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 823,
"cds_start": 557,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952490.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "NM_001001992.2",
"protein_id": "NP_001001992.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 822,
"cds_start": 554,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001992.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP16",
"gene_hgnc_id": 12614,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Pro185Leu",
"transcript": "ENST00000885881.1",
"protein_id": "ENSP00000555940.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 822,
"cds_start": 554,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885881.1"
},
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}
],
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}