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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: 10-49738249-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49738249&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 49738249,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374103.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu",
"transcript": "NM_018245.3",
"protein_id": "NP_060715.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": "ENST00000374103.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu",
"transcript": "ENST00000374103.9",
"protein_id": "ENSP00000363216.4",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": "NM_018245.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu",
"transcript": "NM_001347819.1",
"protein_id": "NP_001334748.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Ser721Leu",
"transcript": "NM_001143996.2",
"protein_id": "NP_001137468.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 953,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Ser721Leu",
"transcript": "NM_001347820.1",
"protein_id": "NP_001334749.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 953,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Ser721Leu",
"transcript": "ENST00000419399.4",
"protein_id": "ENSP00000401356.1",
"transcript_support_level": 2,
"aa_start": 721,
"aa_end": null,
"aa_length": 953,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu",
"transcript": "NM_001347823.1",
"protein_id": "NP_001334752.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 950,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2153C>T",
"hgvs_p": "p.Ser718Leu",
"transcript": "NM_001347824.2",
"protein_id": "NP_001334753.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 950,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu",
"transcript": "NM_001143997.2",
"protein_id": "NP_001137469.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 801,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu",
"transcript": "NM_001347821.2",
"protein_id": "NP_001334750.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 801,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2730,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu",
"transcript": "NM_001347822.1",
"protein_id": "NP_001334751.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 801,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu",
"transcript": "ENST00000432695.2",
"protein_id": "ENSP00000390240.1",
"transcript_support_level": 2,
"aa_start": 569,
"aa_end": null,
"aa_length": 801,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1526C>T",
"hgvs_p": "p.Ser509Leu",
"transcript": "NM_001347825.2",
"protein_id": "NP_001334754.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 741,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Ser379Leu",
"transcript": "NM_001347826.1",
"protein_id": "NP_001334755.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 611,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu",
"transcript": "XM_011539946.3",
"protein_id": "XP_011538248.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Ser439Leu",
"transcript": "XM_047425466.1",
"protein_id": "XP_047281422.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 671,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 2711,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "n.1251C>T",
"hgvs_p": null,
"transcript": "ENST00000490844.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2651,
"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": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "n.2248C>T",
"hgvs_p": null,
"transcript": "NR_144682.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3462,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "n.2419C>T",
"hgvs_p": null,
"transcript": "NR_144683.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3633,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "n.2157C>T",
"hgvs_p": null,
"transcript": "NR_144684.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3371,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "n.2043C>T",
"hgvs_p": null,
"transcript": "NR_144685.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3257,
"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": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "n.2328C>T",
"hgvs_p": null,
"transcript": "NR_144686.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"dbsnp": "rs773888308",
"frequency_reference_population": 0.00002107999,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000184839,
"gnomad_genomes_af": 0.0000459994,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.943911075592041,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.867,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.891,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000374103.9",
"gene_symbol": "OGDHL",
"hgnc_id": 25590,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ser778Leu"
}
],
"clinvar_disease": "Abnormal brain morphology,Yoon-Bellen neurodevelopmental syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Abnormal brain morphology|Yoon-Bellen neurodevelopmental syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}