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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: 16-579119-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=579119&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 579119,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_148920.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "NM_004204.5",
"protein_id": "NP_004195.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321878.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004204.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000321878.10",
"protein_id": "ENSP00000326674.6",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004204.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321878.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000026218.9",
"protein_id": "ENSP00000026218.5",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 760,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000026218.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "NM_148920.4",
"protein_id": "NP_683721.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 760,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148920.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854227.1",
"protein_id": "ENSP00000524286.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 635,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854227.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854222.1",
"protein_id": "ENSP00000524281.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 625,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854222.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854224.1",
"protein_id": "ENSP00000524283.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 608,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854224.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000968575.1",
"protein_id": "ENSP00000638634.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 608,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968575.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000409527.6",
"protein_id": "ENSP00000386760.2",
"transcript_support_level": 2,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409527.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854221.1",
"protein_id": "ENSP00000524280.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854221.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854223.1",
"protein_id": "ENSP00000524282.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854223.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854228.1",
"protein_id": "ENSP00000524287.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854228.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000968576.1",
"protein_id": "ENSP00000638635.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968576.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000968577.1",
"protein_id": "ENSP00000638636.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968577.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000968578.1",
"protein_id": "ENSP00000638637.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 581,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968578.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000854226.1",
"protein_id": "ENSP00000524285.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 572,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854226.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.1142G>T",
"hgvs_p": "p.Arg381Leu",
"transcript": "ENST00000854225.1",
"protein_id": "ENSP00000524284.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 537,
"cds_start": 1142,
"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": "ENST00000854225.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.29G>T",
"hgvs_p": "p.Arg10Leu",
"transcript": "ENST00000540241.1",
"protein_id": "ENSP00000439374.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 139,
"cds_start": 29,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "n.305G>T",
"hgvs_p": null,
"transcript": "ENST00000420990.6",
"protein_id": "ENSP00000409341.2",
"transcript_support_level": 5,
"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": "ENST00000420990.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "n.1316G>T",
"hgvs_p": null,
"transcript": "ENST00000443147.5",
"protein_id": "ENSP00000410434.1",
"transcript_support_level": 2,
"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": "ENST00000443147.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "n.63G>T",
"hgvs_p": null,
"transcript": "ENST00000480424.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000480424.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "n.158G>T",
"hgvs_p": null,
"transcript": "ENST00000635205.1",
"protein_id": "ENSP00000489216.1",
"transcript_support_level": 5,
"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",
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],
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"computational_score_selected": 0.026449978351593018,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.564,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.075,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 1,
"criteria": [
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_148920.4",
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"effects": [
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "Epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Epilepsy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}