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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: 10-27862453-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27862453&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27862453,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000305242.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "NM_018076.5",
"protein_id": "NP_060546.2",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": "ENST00000305242.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "ENST00000305242.10",
"protein_id": "ENSP00000306410.5",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": "NM_018076.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "NM_001290020.2",
"protein_id": "NP_001276949.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "ENST00000673439.1",
"protein_id": "ENSP00000500782.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1856T>G",
"hgvs_p": "p.Leu619Trp",
"transcript": "NM_001312689.2",
"protein_id": "NP_001299618.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 736,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1856T>G",
"hgvs_p": "p.Leu619Trp",
"transcript": "ENST00000672841.1",
"protein_id": "ENSP00000499983.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 736,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1355T>G",
"hgvs_p": "p.Leu452Trp",
"transcript": "NM_001290021.2",
"protein_id": "NP_001276950.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 612,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1355T>G",
"hgvs_p": "p.Leu452Trp",
"transcript": "ENST00000672877.1",
"protein_id": "ENSP00000500120.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 612,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2909T>G",
"hgvs_p": "p.Leu970Trp",
"transcript": "XM_024448049.2",
"protein_id": "XP_024303817.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2909T>G",
"hgvs_p": "p.Leu970Trp",
"transcript": "XM_024448050.2",
"protein_id": "XP_024303818.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2909T>G",
"hgvs_p": "p.Leu970Trp",
"transcript": "XM_024448051.2",
"protein_id": "XP_024303819.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2909T>G",
"hgvs_p": "p.Leu970Trp",
"transcript": "XM_024448052.2",
"protein_id": "XP_024303820.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2909T>G",
"hgvs_p": "p.Leu970Trp",
"transcript": "XM_024448053.2",
"protein_id": "XP_024303821.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "XM_011519527.2",
"protein_id": "XP_011517829.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2780,
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"cds_length": 3195,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "XM_047425401.1",
"protein_id": "XP_047281357.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "XM_047425402.1",
"protein_id": "XP_047281358.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
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"cds_length": 3135,
"cdna_start": 4103,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "XM_047425403.1",
"protein_id": "XP_047281359.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2780T>G",
"hgvs_p": "p.Leu927Trp",
"transcript": "XM_047425404.1",
"protein_id": "XP_047281360.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2699T>G",
"hgvs_p": "p.Leu900Trp",
"transcript": "XM_047425405.1",
"protein_id": "XP_047281361.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2699,
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"cds_length": 3114,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2570T>G",
"hgvs_p": "p.Leu857Trp",
"transcript": "XM_047425407.1",
"protein_id": "XP_047281363.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 994,
"cds_start": 2570,
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"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2570T>G",
"hgvs_p": "p.Leu857Trp",
"transcript": "XM_047425408.1",
"protein_id": "XP_047281364.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 994,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2570T>G",
"hgvs_p": "p.Leu857Trp",
"transcript": "XM_047425409.1",
"protein_id": "XP_047281365.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 974,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1 O:1",
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
],
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}