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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: 17-78803778-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78803778&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78803778,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001385169.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385174.1",
"protein_id": "NP_001372103.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000449938.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385174.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000449938.7",
"protein_id": "ENSP00000401119.4",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385174.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449938.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000542802.7",
"protein_id": "ENSP00000441214.1",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542802.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "n.*125A>G",
"hgvs_p": null,
"transcript": "ENST00000588086.6",
"protein_id": "ENSP00000468549.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000588086.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "n.2417A>G",
"hgvs_p": null,
"transcript": "ENST00000589225.5",
"protein_id": "ENSP00000467280.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000589225.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "n.*125A>G",
"hgvs_p": null,
"transcript": "ENST00000588086.6",
"protein_id": "ENSP00000468549.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000588086.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000865526.1",
"protein_id": "ENSP00000535585.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865526.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385169.1",
"protein_id": "NP_001372098.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385169.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000927226.1",
"protein_id": "ENSP00000597285.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927226.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000927227.1",
"protein_id": "ENSP00000597286.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927227.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001321291.2",
"protein_id": "NP_001308220.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321291.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385170.1",
"protein_id": "NP_001372099.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385170.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385171.1",
"protein_id": "NP_001372100.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385171.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385172.1",
"protein_id": "NP_001372101.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385172.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385173.1",
"protein_id": "NP_001372102.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385173.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385175.1",
"protein_id": "NP_001372104.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385175.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "NM_001385176.1",
"protein_id": "NP_001372105.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385176.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000312010.10",
"protein_id": "ENSP00000310590.6",
"transcript_support_level": 5,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312010.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000592231.6",
"protein_id": "ENSP00000465698.2",
"transcript_support_level": 2,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592231.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000865525.1",
"protein_id": "ENSP00000535584.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865525.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000865527.1",
"protein_id": "ENSP00000535586.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865527.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP36",
"gene_hgnc_id": 20062,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Gln806Arg",
"transcript": "ENST00000947940.1",
"protein_id": "ENSP00000617999.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Benign",
"transcript": "NM_001385169.1",
"gene_symbol": "USP36",
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"effects": [
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"inheritance_mode": "AR",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}