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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: 10-27812617-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27812617&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27812617,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001290021.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "NM_018076.5",
"protein_id": "NP_060546.2",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305242.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018076.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "ENST00000305242.10",
"protein_id": "ENSP00000306410.5",
"transcript_support_level": 1,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018076.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305242.10"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Trp576*",
"transcript": "NM_001290021.2",
"protein_id": "NP_001276950.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 612,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290021.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Trp576*",
"transcript": "ENST00000672877.1",
"protein_id": "ENSP00000500120.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 612,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672877.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "NM_001290020.2",
"protein_id": "NP_001276949.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290020.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "ENST00000673439.1",
"protein_id": "ENSP00000500782.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673439.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "ENST00000852623.1",
"protein_id": "ENSP00000522682.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852623.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "ENST00000923084.1",
"protein_id": "ENSP00000593143.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1044,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923084.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2913G>A",
"hgvs_p": "p.Leu971Leu",
"transcript": "ENST00000852625.1",
"protein_id": "ENSP00000522684.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852625.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2820G>A",
"hgvs_p": "p.Leu940Leu",
"transcript": "ENST00000923083.1",
"protein_id": "ENSP00000593142.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 974,
"cds_start": 2820,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923083.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2820G>A",
"hgvs_p": "p.Leu940Leu",
"transcript": "ENST00000923088.1",
"protein_id": "ENSP00000593147.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 974,
"cds_start": 2820,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923088.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2673G>A",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000923087.1",
"protein_id": "ENSP00000593146.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 925,
"cds_start": 2673,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923087.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2367G>A",
"hgvs_p": "p.Leu789Leu",
"transcript": "ENST00000923086.1",
"protein_id": "ENSP00000593145.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 823,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923086.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2268G>A",
"hgvs_p": "p.Leu756Leu",
"transcript": "ENST00000852624.1",
"protein_id": "ENSP00000522683.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 790,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852624.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2106G>A",
"hgvs_p": "p.Leu702Leu",
"transcript": "NM_001312689.2",
"protein_id": "NP_001299618.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 736,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312689.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.2106G>A",
"hgvs_p": "p.Leu702Leu",
"transcript": "ENST00000672841.1",
"protein_id": "ENSP00000499983.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 736,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672841.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Leu602Leu",
"transcript": "ENST00000923085.1",
"protein_id": "ENSP00000593144.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 636,
"cds_start": 1806,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923085.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.108G>A",
"hgvs_p": "p.Leu36Leu",
"transcript": "ENST00000671855.1",
"protein_id": "ENSP00000500073.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 70,
"cds_start": 108,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671855.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3219G>A",
"hgvs_p": "p.Leu1073Leu",
"transcript": "XM_024448049.2",
"protein_id": "XP_024303817.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448049.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3219G>A",
"hgvs_p": "p.Leu1073Leu",
"transcript": "XM_024448050.2",
"protein_id": "XP_024303818.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448050.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3219G>A",
"hgvs_p": "p.Leu1073Leu",
"transcript": "XM_024448051.2",
"protein_id": "XP_024303819.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448051.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"hgvs_c": "c.3219G>A",
"hgvs_p": "p.Leu1073Leu",
"transcript": "XM_024448052.2",
"protein_id": "XP_024303820.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
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"transcript": "ENST00000673384.1",
"protein_id": "ENSP00000500856.1",
"transcript_support_level": null,
"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": "ENST00000673384.1"
}
],
"gene_symbol": "ODAD2",
"gene_hgnc_id": 25583,
"dbsnp": "rs866397170",
"frequency_reference_population": 0.0000034666466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000346665,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.387,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290021.2",
"gene_symbol": "ODAD2",
"hgnc_id": 25583,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Trp576*"
}
],
"clinvar_disease": "Primary ciliary dyskinesia 23",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Primary ciliary dyskinesia 23",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}