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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: 3-193614797-TTTCACGAAGCATTTATCA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193614797&ref=TTTCACGAAGCATTTATCA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 193614797,
"ref": "TTTCACGAAGCATTTATCA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000361510.8",
"consequences": [
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130837.3",
"protein_id": "NP_570850.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1015,
"cds_start": 113,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "ENST00000361510.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000361510.8",
"protein_id": "ENSP00000355324.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 1015,
"cds_start": 113,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "NM_130837.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000361908.8",
"protein_id": "ENSP00000354681.3",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 997,
"cds_start": 113,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130836.3",
"protein_id": "NP_570849.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 997,
"cds_start": 113,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130835.3",
"protein_id": "NP_570848.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 979,
"cds_start": 113,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000361715.6",
"protein_id": "ENSP00000355311.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 979,
"cds_start": 113,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130834.3",
"protein_id": "NP_570847.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 978,
"cds_start": 113,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000392437.6",
"protein_id": "ENSP00000376232.2",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 978,
"cds_start": 113,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000392436.7",
"protein_id": "ENSP00000376231.3",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 972,
"cds_start": 113,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSIYHSH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000645553.1",
"protein_id": "ENSP00000494725.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 965,
"cds_start": 113,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130833.3",
"protein_id": "NP_570846.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 961,
"cds_start": 113,
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"cdna_start": 283,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000361150.6",
"protein_id": "ENSP00000354781.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 961,
"cds_start": 113,
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"cdna_start": 347,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_015560.3",
"protein_id": "NP_056375.2",
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},
{
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],
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"gene_symbol": "OPA1",
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"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000361828.7",
"protein_id": "ENSP00000354429.3",
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"aa_start": 38,
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"cds_start": 113,
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"cdna_start": 347,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130832.3",
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},
{
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "NM_130831.3",
"protein_id": "NP_570844.1",
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"aa_start": 38,
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"mane_select": null,
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},
{
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"consequences": [
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],
"exon_rank": 2,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "ENST00000646793.1",
"protein_id": "ENSP00000494512.1",
"transcript_support_level": null,
"aa_start": 38,
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"cds_start": 113,
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"cdna_start": 244,
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},
{
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],
"exon_rank": 2,
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"intron_rank": null,
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"transcript": "XM_047448206.1",
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},
{
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],
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"gene_symbol": "OPA1",
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},
{
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],
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"gene_symbol": "OPA1",
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"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPA1",
"gene_hgnc_id": 8140,
"hgvs_c": "c.113_130delGAAGCATTTATCATTCAC",
"hgvs_p": "p.Arg38_Ser43del",
"transcript": "XM_047448209.1",
"protein_id": "XP_047304165.1",
"transcript_support_level": null,
"aa_start": 38,
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"aa_length": 993,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:4 B:1",
"phenotype_combined": "not specified|9 conditions|not provided|Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|Abortive cerebellar ataxia|Optic atrophy|OPA1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}