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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: 6-138907513-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138907513&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138907513,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001286611.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2304A>G",
"hgvs_p": "p.Glu768Glu",
"transcript": "NM_001286611.2",
"protein_id": "NP_001273540.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 796,
"cds_start": 2304,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": "ENST00000450536.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286611.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2304A>G",
"hgvs_p": "p.Glu768Glu",
"transcript": "ENST00000450536.7",
"protein_id": "ENSP00000392065.2",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 796,
"cds_start": 2304,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": "NM_001286611.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450536.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2301A>G",
"hgvs_p": "p.Glu767Glu",
"transcript": "ENST00000258062.9",
"protein_id": "ENSP00000258062.5",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 795,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258062.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2031A>G",
"hgvs_p": "p.Glu677Glu",
"transcript": "ENST00000409812.6",
"protein_id": "ENSP00000386699.2",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 705,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409812.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "n.1031A>G",
"hgvs_p": null,
"transcript": "ENST00000484164.6",
"protein_id": null,
"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": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484164.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2328A>G",
"hgvs_p": "p.Glu776Glu",
"transcript": "ENST00000913792.1",
"protein_id": "ENSP00000583851.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 804,
"cds_start": 2328,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913792.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2319A>G",
"hgvs_p": "p.Glu773Glu",
"transcript": "ENST00000913794.1",
"protein_id": "ENSP00000583853.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 801,
"cds_start": 2319,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913794.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2301A>G",
"hgvs_p": "p.Glu767Glu",
"transcript": "NM_031922.5",
"protein_id": "NP_114128.3",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 795,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031922.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2301A>G",
"hgvs_p": "p.Glu767Glu",
"transcript": "ENST00000886446.1",
"protein_id": "ENSP00000556505.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 795,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886446.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2298A>G",
"hgvs_p": "p.Glu766Glu",
"transcript": "ENST00000886454.1",
"protein_id": "ENSP00000556513.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 794,
"cds_start": 2298,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886454.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2298A>G",
"hgvs_p": "p.Glu766Glu",
"transcript": "ENST00000913795.1",
"protein_id": "ENSP00000583854.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 794,
"cds_start": 2298,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913795.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2262A>G",
"hgvs_p": "p.Glu754Glu",
"transcript": "ENST00000886449.1",
"protein_id": "ENSP00000556508.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 782,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2813,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886449.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2244A>G",
"hgvs_p": "p.Glu748Glu",
"transcript": "ENST00000968036.1",
"protein_id": "ENSP00000638095.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 776,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968036.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2241A>G",
"hgvs_p": "p.Glu747Glu",
"transcript": "ENST00000886450.1",
"protein_id": "ENSP00000556510.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 775,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886450.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2241A>G",
"hgvs_p": "p.Glu747Glu",
"transcript": "ENST00000968037.1",
"protein_id": "ENSP00000638096.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 775,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968037.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Glu746Glu",
"transcript": "ENST00000886452.1",
"protein_id": "ENSP00000556511.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886452.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Glu746Glu",
"transcript": "ENST00000886458.1",
"protein_id": "ENSP00000556517.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 774,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886458.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2235A>G",
"hgvs_p": "p.Glu745Glu",
"transcript": "ENST00000968035.1",
"protein_id": "ENSP00000638094.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 773,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2806,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968035.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2223A>G",
"hgvs_p": "p.Glu741Glu",
"transcript": "NM_001128617.3",
"protein_id": "NP_001122089.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 769,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128617.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2223A>G",
"hgvs_p": "p.Glu741Glu",
"transcript": "ENST00000367663.8",
"protein_id": "ENSP00000356635.4",
"transcript_support_level": 5,
"aa_start": 741,
"aa_end": null,
"aa_length": 769,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367663.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2214A>G",
"hgvs_p": "p.Glu738Glu",
"transcript": "ENST00000886462.1",
"protein_id": "ENSP00000556521.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 766,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886462.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.2196A>G",
"hgvs_p": "p.Glu732Glu",
"transcript": "ENST00000968038.1",
"protein_id": "ENSP00000638097.1",
"transcript_support_level": null,
"aa_start": 732,
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{
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"BP7"
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"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}