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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: 10-49737840-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49737840&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 49737840,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018245.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "NM_018245.3",
"protein_id": "NP_060715.2",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374103.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018245.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "ENST00000374103.9",
"protein_id": "ENSP00000363216.4",
"transcript_support_level": 1,
"aa_start": 846,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018245.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374103.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2629A>G",
"hgvs_p": "p.Lys877Glu",
"transcript": "ENST00000852721.1",
"protein_id": "ENSP00000522780.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2629,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852721.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2554A>G",
"hgvs_p": "p.Lys852Glu",
"transcript": "ENST00000852716.1",
"protein_id": "ENSP00000522775.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852716.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2539A>G",
"hgvs_p": "p.Lys847Glu",
"transcript": "ENST00000852718.1",
"protein_id": "ENSP00000522777.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852718.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "NM_001347819.1",
"protein_id": "NP_001334748.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347819.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "ENST00000852713.1",
"protein_id": "ENSP00000522772.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852713.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "ENST00000852720.1",
"protein_id": "ENSP00000522779.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852720.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "ENST00000967765.1",
"protein_id": "ENSP00000637824.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967765.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2530A>G",
"hgvs_p": "p.Lys844Glu",
"transcript": "ENST00000852722.1",
"protein_id": "ENSP00000522781.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2530,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852722.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2512A>G",
"hgvs_p": "p.Lys838Glu",
"transcript": "ENST00000917749.1",
"protein_id": "ENSP00000587808.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917749.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Lys846Glu",
"transcript": "ENST00000852717.1",
"protein_id": "ENSP00000522776.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 999,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852717.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Lys831Glu",
"transcript": "ENST00000852719.1",
"protein_id": "ENSP00000522778.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 995,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852719.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2368A>G",
"hgvs_p": "p.Lys790Glu",
"transcript": "ENST00000967764.1",
"protein_id": "ENSP00000637823.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 954,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967764.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Lys789Glu",
"transcript": "NM_001143996.2",
"protein_id": "NP_001137468.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143996.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Lys789Glu",
"transcript": "NM_001347820.1",
"protein_id": "NP_001334749.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347820.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Lys789Glu",
"transcript": "ENST00000419399.4",
"protein_id": "ENSP00000401356.1",
"transcript_support_level": 2,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419399.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Lys789Glu",
"transcript": "ENST00000852715.1",
"protein_id": "ENSP00000522774.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852715.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2365A>G",
"hgvs_p": "p.Lys789Glu",
"transcript": "ENST00000967766.1",
"protein_id": "ENSP00000637825.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967766.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2356A>G",
"hgvs_p": "p.Lys786Glu",
"transcript": "NM_001347823.1",
"protein_id": "NP_001334752.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 950,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347823.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2356A>G",
"hgvs_p": "p.Lys786Glu",
"transcript": "NM_001347824.2",
"protein_id": "NP_001334753.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 950,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347824.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "OGDHL",
"gene_hgnc_id": 25590,
"hgvs_c": "c.2356A>G",
"hgvs_p": "p.Lys786Glu",
"transcript": "ENST00000852714.1",
"protein_id": "ENSP00000522773.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 950,
"cds_start": 2356,
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{
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"verdict": "Likely_pathogenic",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}