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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: 20-35021259-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35021259&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TRPC4AP",
"hgnc_id": 16181,
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015638.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": 0.9885,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6800912022590637,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 797,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015638.3",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252015.3",
"protein_coding": true,
"protein_id": "NP_056453.1",
"strand": false,
"transcript": "NM_015638.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 797,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000252015.3",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015638.3",
"protein_coding": true,
"protein_id": "ENSP00000252015.2",
"strand": false,
"transcript": "ENST00000252015.3",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970992.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641051.1",
"strand": false,
"transcript": "ENST00000970992.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 839,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888656.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558715.1",
"strand": false,
"transcript": "ENST00000888656.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 831,
"aa_ref": "H",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888655.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558714.1",
"strand": false,
"transcript": "ENST00000888655.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 817,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937644.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607703.1",
"strand": false,
"transcript": "ENST00000937644.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 809,
"aa_ref": "H",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970995.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641054.1",
"strand": false,
"transcript": "ENST00000970995.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 797,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888645.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558704.1",
"strand": false,
"transcript": "ENST00000888645.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 796,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937641.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607700.1",
"strand": false,
"transcript": "ENST00000937641.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 796,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970990.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641049.1",
"strand": false,
"transcript": "ENST00000970990.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 795,
"aa_ref": "H",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888647.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558706.1",
"strand": false,
"transcript": "ENST00000888647.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 789,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_199368.2",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955400.1",
"strand": false,
"transcript": "NM_199368.2",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000451813.6",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400614.1",
"strand": false,
"transcript": "ENST00000451813.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
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"aa_length": 789,
"aa_ref": "H",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970988.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641047.1",
"strand": false,
"transcript": "ENST00000970988.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 788,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1122,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937646.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1122T>G",
"hgvs_p": "p.His374Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607705.1",
"strand": false,
"transcript": "ENST00000937646.1",
"transcript_support_level": null
},
{
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"aa_length": 788,
"aa_ref": "H",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1125,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970994.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641053.1",
"strand": false,
"transcript": "ENST00000970994.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 787,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1125,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888654.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1125T>G",
"hgvs_p": "p.His375Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558713.1",
"strand": false,
"transcript": "ENST00000888654.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1149,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888657.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1149T>G",
"hgvs_p": "p.His383Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558716.1",
"strand": false,
"transcript": "ENST00000888657.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1098,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970989.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1098T>G",
"hgvs_p": "p.His366Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641048.1",
"strand": false,
"transcript": "ENST00000970989.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 777,
"aa_ref": "H",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1089,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970991.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
"hgvs_c": "c.1089T>G",
"hgvs_p": "p.His363Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641050.1",
"strand": false,
"transcript": "ENST00000970991.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 776,
"aa_ref": "H",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1086,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937648.1",
"gene_hgnc_id": 16181,
"gene_symbol": "TRPC4AP",
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}