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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: 15-75598617-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75598617&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75598617,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005701.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "NM_005701.4",
"protein_id": "NP_005692.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308588.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005701.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000308588.10",
"protein_id": "ENSP00000309831.5",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005701.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308588.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Gly301Ala",
"transcript": "ENST00000896168.1",
"protein_id": "ENSP00000566227.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 386,
"cds_start": 902,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896168.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Gly301Ala",
"transcript": "ENST00000934023.1",
"protein_id": "ENSP00000604082.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 386,
"cds_start": 902,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934023.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Gly301Ala",
"transcript": "ENST00000960224.1",
"protein_id": "ENSP00000630283.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 386,
"cds_start": 902,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960224.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "NM_001042581.2",
"protein_id": "NP_001036046.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042581.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "NM_001042588.2",
"protein_id": "NP_001036053.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042588.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000564644.5",
"protein_id": "ENSP00000454852.1",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564644.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000564675.5",
"protein_id": "ENSP00000458053.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564675.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000567134.5",
"protein_id": "ENSP00000456224.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567134.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000896163.1",
"protein_id": "ENSP00000566222.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896163.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000896164.1",
"protein_id": "ENSP00000566223.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896164.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000896170.1",
"protein_id": "ENSP00000566229.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896170.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000896171.1",
"protein_id": "ENSP00000566230.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896171.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000896172.1",
"protein_id": "ENSP00000566231.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896172.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000934024.1",
"protein_id": "ENSP00000604083.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934024.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000934025.1",
"protein_id": "ENSP00000604084.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934025.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000960222.1",
"protein_id": "ENSP00000630281.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960222.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "ENST00000960225.1",
"protein_id": "ENSP00000630284.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 360,
"cds_start": 824,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960225.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Gly253Ala",
"transcript": "ENST00000896169.1",
"protein_id": "ENSP00000566228.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 338,
"cds_start": 758,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896169.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Gly253Ala",
"transcript": "ENST00000896174.1",
"protein_id": "ENSP00000566233.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 338,
"cds_start": 758,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896174.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Gly249Ala",
"transcript": "ENST00000896166.1",
"protein_id": "ENSP00000566225.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 334,
"cds_start": 746,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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{
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"verdict": "Uncertain_significance",
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{
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],
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}