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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: 19-56422966-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56422966&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56422966,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152478.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "NM_152478.3",
"protein_id": "NP_689691.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333201.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152478.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000333201.13",
"protein_id": "ENSP00000388502.2",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152478.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333201.13"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "ENST00000890730.1",
"protein_id": "ENSP00000560789.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890730.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "ENST00000969490.1",
"protein_id": "ENSP00000639549.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969490.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "NM_001159860.2",
"protein_id": "NP_001153332.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159860.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "NM_001159861.2",
"protein_id": "NP_001153333.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159861.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000291598.11",
"protein_id": "ENSP00000291598.7",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291598.11"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000890731.1",
"protein_id": "ENSP00000560790.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890731.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000890732.1",
"protein_id": "ENSP00000560791.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890732.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000890733.1",
"protein_id": "ENSP00000560792.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890733.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000923222.1",
"protein_id": "ENSP00000593281.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923222.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000969491.1",
"protein_id": "ENSP00000639550.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 569,
"cds_start": 308,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969491.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Thr71Arg",
"transcript": "ENST00000923221.1",
"protein_id": "ENSP00000593280.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 537,
"cds_start": 212,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923221.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000391778.3",
"protein_id": "ENSP00000375657.3",
"transcript_support_level": 4,
"aa_start": 103,
"aa_end": null,
"aa_length": 136,
"cds_start": 308,
"cds_end": null,
"cds_length": 412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391778.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Thr103Arg",
"transcript": "ENST00000537943.5",
"protein_id": "ENSP00000444291.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 128,
"cds_start": 308,
"cds_end": null,
"cds_length": 389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537943.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_005258558.2",
"protein_id": "XP_005258615.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258558.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_017026346.3",
"protein_id": "XP_016881835.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026346.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_017026347.3",
"protein_id": "XP_016881836.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026347.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_017026348.2",
"protein_id": "XP_016881837.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026348.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_017026349.2",
"protein_id": "XP_016881838.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026349.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_047438234.1",
"protein_id": "XP_047294190.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438234.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Thr104Arg",
"transcript": "XM_047438235.1",
"protein_id": "XP_047294191.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 570,
"cds_start": 311,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}