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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: 15-75617547-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75617547&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75617547,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005701.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_005701.4",
"protein_id": "NP_005692.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000308588.10",
"protein_id": "ENSP00000309831.5",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896168.1",
"protein_id": "ENSP00000566227.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 386,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000934023.1",
"protein_id": "ENSP00000604082.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 386,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000960224.1",
"protein_id": "ENSP00000630283.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 386,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_001042581.2",
"protein_id": "NP_001036046.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_001042588.2",
"protein_id": "NP_001036053.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000564644.5",
"protein_id": "ENSP00000454852.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000564675.5",
"protein_id": "ENSP00000458053.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000567134.5",
"protein_id": "ENSP00000456224.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896163.1",
"protein_id": "ENSP00000566222.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896164.1",
"protein_id": "ENSP00000566223.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896170.1",
"protein_id": "ENSP00000566229.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896171.1",
"protein_id": "ENSP00000566230.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896172.1",
"protein_id": "ENSP00000566231.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000934024.1",
"protein_id": "ENSP00000604083.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000934025.1",
"protein_id": "ENSP00000604084.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000960222.1",
"protein_id": "ENSP00000630281.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "ENST00000960222.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000960225.1",
"protein_id": "ENSP00000630284.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 360,
"cds_start": 164,
"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": "ENST00000960225.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896169.1",
"protein_id": "ENSP00000566228.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 338,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896174.1",
"protein_id": "ENSP00000566233.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 338,
"cds_start": 164,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNUPN",
"gene_hgnc_id": 14245,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000896166.1",
"protein_id": "ENSP00000566225.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 334,
"cds_start": 164,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896166.1"
},
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"computational_score_selected": 0.5837395787239075,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.099,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
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"criteria": [
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"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005701.4",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "SNUPN deficiency muscular dystrophy,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not specified|SNUPN deficiency muscular dystrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}