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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: 17-82921536-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82921536&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82921536,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000355528.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.His713Asp",
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000355528.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.His713Asp",
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_005993.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.795C>G",
"hgvs_p": null,
"transcript": "ENST00000571796.5",
"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": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1348C>G",
"hgvs_p": null,
"transcript": "ENST00000576677.6",
"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": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.His802Asp",
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2323C>G",
"hgvs_p": "p.His775Asp",
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2323,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 7322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.His713Asp",
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": 713,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2137C>G",
"hgvs_p": "p.His713Asp",
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2227C>G",
"hgvs_p": "p.His743Asp",
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2227,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 7258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2221C>G",
"hgvs_p": "p.His741Asp",
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2221,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2086C>G",
"hgvs_p": "p.His696Asp",
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2086,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2086C>G",
"hgvs_p": "p.His696Asp",
"transcript": "ENST00000682722.1",
"protein_id": "ENSP00000508364.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2086,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2065C>G",
"hgvs_p": "p.His689Asp",
"transcript": "ENST00000684429.1",
"protein_id": "ENSP00000507224.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2065,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2056C>G",
"hgvs_p": "p.His686Asp",
"transcript": "NM_001411102.1",
"protein_id": "NP_001398031.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2056,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2056C>G",
"hgvs_p": "p.His686Asp",
"transcript": "ENST00000684544.1",
"protein_id": "ENSP00000507337.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2056,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2053C>G",
"hgvs_p": "p.His685Asp",
"transcript": "ENST00000683282.1",
"protein_id": "ENSP00000506913.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2053,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1948C>G",
"hgvs_p": "p.His650Asp",
"transcript": "NM_001438250.1",
"protein_id": "NP_001425179.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1948,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1948C>G",
"hgvs_p": "p.His650Asp",
"transcript": "ENST00000684188.1",
"protein_id": "ENSP00000507153.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1948,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1780C>G",
"hgvs_p": "p.His594Asp",
"transcript": "NM_001437989.1",
"protein_id": "NP_001424918.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1780,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 6802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1780C>G",
"hgvs_p": "p.His594Asp",
"transcript": "ENST00000684408.1",
"protein_id": "ENSP00000506837.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1780,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.His151Asp",
"transcript": "ENST00000682315.1",
"protein_id": "ENSP00000507232.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 630,
"cds_start": 451,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.His151Asp",
"transcript": "ENST00000683821.1",
"protein_id": "ENSP00000507651.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 630,
"cds_start": 451,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.His151Asp",
"transcript": "ENST00000576760.5",
"protein_id": "ENSP00000460949.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,Thiel-Behnke corneal dystrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Thiel-Behnke corneal dystrophy|Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}