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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: 7-158930469-G-GGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158930469&ref=G&alt=GGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 158930469,
"ref": "G",
"alt": "GGGA",
"effect": "conservative_inframe_insertion",
"transcript": "NM_018051.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2503_2505dupAGG",
"hgvs_p": "p.Arg835dup",
"transcript": "NM_018051.5",
"protein_id": "NP_060521.4",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407559.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018051.5"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2503_2505dupAGG",
"hgvs_p": "p.Arg835dup",
"transcript": "ENST00000407559.8",
"protein_id": "ENSP00000384290.3",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018051.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407559.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.*92_*94dupAGG",
"hgvs_p": null,
"transcript": "ENST00000444851.5",
"protein_id": "ENSP00000392608.1",
"transcript_support_level": 1,
"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": "ENST00000444851.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.*92_*94dupAGG",
"hgvs_p": null,
"transcript": "ENST00000444851.5",
"protein_id": "ENSP00000392608.1",
"transcript_support_level": 1,
"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": "ENST00000444851.5"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2578_2580dupAGG",
"hgvs_p": "p.Arg860dup",
"transcript": "ENST00000860814.1",
"protein_id": "ENSP00000530873.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2581,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860814.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2557_2559dupAGG",
"hgvs_p": "p.Arg853dup",
"transcript": "ENST00000961351.1",
"protein_id": "ENSP00000631410.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961351.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2512_2514dupAGG",
"hgvs_p": "p.Arg838dup",
"transcript": "ENST00000860811.1",
"protein_id": "ENSP00000530870.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860811.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2500_2502dupAGG",
"hgvs_p": "p.Arg834dup",
"transcript": "ENST00000936430.1",
"protein_id": "ENSP00000606489.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2503,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936430.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2497_2499dupAGG",
"hgvs_p": "p.Arg833dup",
"transcript": "ENST00000860813.1",
"protein_id": "ENSP00000530872.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2500,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860813.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2392_2394dupAGG",
"hgvs_p": "p.Arg798dup",
"transcript": "ENST00000860810.1",
"protein_id": "ENSP00000530869.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2395,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860810.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2503_2505dupAGG",
"hgvs_p": "p.Arg835dup",
"transcript": "ENST00000961350.1",
"protein_id": "ENSP00000631409.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961350.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2365_2367dupAGG",
"hgvs_p": "p.Arg789dup",
"transcript": "NM_001350914.2",
"protein_id": "NP_001337843.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2368,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350914.2"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2323_2325dupAGG",
"hgvs_p": "p.Arg775dup",
"transcript": "ENST00000860812.1",
"protein_id": "ENSP00000530871.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2326,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860812.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2323_2325dupAGG",
"hgvs_p": "p.Arg775dup",
"transcript": "ENST00000961352.1",
"protein_id": "ENSP00000631411.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2326,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961352.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1930_1932dupAGG",
"hgvs_p": "p.Arg644dup",
"transcript": "NM_001350915.2",
"protein_id": "NP_001337844.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 875,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350915.2"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1255_1257dupAGG",
"hgvs_p": "p.Arg419dup",
"transcript": "NM_001350917.2",
"protein_id": "NP_001337846.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 650,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350917.2"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1255_1257dupAGG",
"hgvs_p": "p.Arg419dup",
"transcript": "NM_001350918.2",
"protein_id": "NP_001337847.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 650,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350918.2"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1042_1044dupAGG",
"hgvs_p": "p.Arg348dup",
"transcript": "NM_001350916.2",
"protein_id": "NP_001337845.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 579,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350916.2"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2512_2514dupAGG",
"hgvs_p": "p.Arg838dup",
"transcript": "XM_006716041.3",
"protein_id": "XP_006716104.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716041.3"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2512_2514dupAGG",
"hgvs_p": "p.Arg838dup",
"transcript": "XM_011516367.3",
"protein_id": "XP_011514669.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516367.3"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2503_2505dupAGG",
"hgvs_p": "p.Arg835dup",
"transcript": "XM_047420557.1",
"protein_id": "XP_047276513.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420557.1"
},
{
"aa_ref": "V",
"aa_alt": "RV",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
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],
"clinvar_disease": "Asphyxiating thoracic dystrophy 3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Asphyxiating thoracic dystrophy 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}