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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: 7-144682943-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=144682943&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 144682943,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000360057.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_022445.4",
"protein_id": "NP_071890.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 243,
"cds_start": 151,
"cds_end": null,
"cds_length": 732,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": "ENST00000360057.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000360057.7",
"protein_id": "ENSP00000353165.3",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 243,
"cds_start": 151,
"cds_end": null,
"cds_length": 732,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": "NM_022445.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.151C>G",
"hgvs_p": null,
"transcript": "ENST00000378098.8",
"protein_id": "ENSP00000367338.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.241C>G",
"hgvs_p": null,
"transcript": "ENST00000481645.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.15C>G",
"hgvs_p": null,
"transcript": "ENST00000482940.5",
"protein_id": "ENSP00000449909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001350879.1",
"protein_id": "NP_001337808.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 243,
"cds_start": 151,
"cds_end": null,
"cds_length": 732,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001350881.1",
"protein_id": "NP_001337810.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 241,
"cds_start": 151,
"cds_end": null,
"cds_length": 726,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001042482.2",
"protein_id": "NP_001035947.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 194,
"cds_start": 151,
"cds_end": null,
"cds_length": 585,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001350880.1",
"protein_id": "NP_001337809.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 194,
"cds_start": 151,
"cds_end": null,
"cds_length": 585,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000378099.7",
"protein_id": "ENSP00000367339.3",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 194,
"cds_start": 151,
"cds_end": null,
"cds_length": 585,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000552881.1",
"protein_id": "ENSP00000448655.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 165,
"cds_start": 151,
"cds_end": null,
"cds_length": 500,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_011516031.2",
"protein_id": "XP_011514333.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 269,
"cds_start": 151,
"cds_end": null,
"cds_length": 810,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_011516032.3",
"protein_id": "XP_011514334.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 269,
"cds_start": 151,
"cds_end": null,
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"cdna_start": 404,
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"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_011516033.3",
"protein_id": "XP_011514335.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_011516034.3",
"protein_id": "XP_011514336.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 269,
"cds_start": 151,
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"cds_length": 810,
"cdna_start": 372,
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"cdna_length": 2635,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_017011969.2",
"protein_id": "XP_016867458.1",
"transcript_support_level": null,
"aa_start": 51,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_017011972.2",
"protein_id": "XP_016867461.1",
"transcript_support_level": null,
"aa_start": 51,
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"cds_start": 151,
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"cdna_start": 254,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_005249970.2",
"protein_id": "XP_005250027.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 243,
"cds_start": 151,
"cds_end": null,
"cds_length": 732,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_047420192.1",
"protein_id": "XP_047276148.1",
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"aa_start": 51,
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"cdna_start": 413,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_011516040.3",
"protein_id": "XP_011514342.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_011516043.2",
"protein_id": "XP_011514345.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_047420194.1",
"protein_id": "XP_047276150.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 194,
"cds_start": 151,
"cds_end": null,
"cds_length": 585,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "XM_047420195.1",
"protein_id": "XP_047276151.1",
"transcript_support_level": null,
"aa_start": 51,
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"cds_start": 151,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000360057.7",
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"effects": [
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"inheritance_mode": "AR",
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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
}