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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: X-31204112-AAAAGGTCTAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=31204112&ref=AAAAGGTCTAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 31204112,
"ref": "AAAAGGTCTAC",
"alt": "A",
"effect": "splice_acceptor_variant,disruptive_inframe_deletion,splice_region_variant,intron_variant",
"transcript": "ENST00000357033.9",
"consequences": [
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9650-4_9655delGTAGACCTTT",
"hgvs_p": "p.Tyr3217_Leu3218del",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 3217,
"aa_end": null,
"aa_length": 3685,
"cds_start": 9650,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 9892,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9650-4_9655delGTAGACCTTT",
"hgvs_p": "p.Tyr3217_Leu3218del",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 3217,
"aa_end": null,
"aa_length": 3685,
"cds_start": 9650,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 9892,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.446-4_451delGTAGACCTTT",
"hgvs_p": "p.Tyr149_Leu150del",
"transcript": "ENST00000378723.7",
"protein_id": "ENSP00000367997.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 635,
"cds_start": 446,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.446-4_451delGTAGACCTTT",
"hgvs_p": "p.Tyr149_Leu150del",
"transcript": "ENST00000361471.8",
"protein_id": "ENSP00000354464.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 622,
"cds_start": 446,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.446-4_451delGTAGACCTTT",
"hgvs_p": "p.Tyr149_Leu150del",
"transcript": "ENST00000378702.8",
"protein_id": "ENSP00000367974.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 617,
"cds_start": 446,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.446-4_451delGTAGACCTTT",
"hgvs_p": "p.Tyr149_Leu150del",
"transcript": "ENST00000378680.6",
"protein_id": "ENSP00000367951.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 525,
"cds_start": 446,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9638-4_9643delGTAGACCTTT",
"hgvs_p": "p.Tyr3213_Leu3214del",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 3213,
"aa_end": null,
"aa_length": 3681,
"cds_start": 9638,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 9906,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9638-4_9643delGTAGACCTTT",
"hgvs_p": "p.Tyr3213_Leu3214del",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 3213,
"aa_end": null,
"aa_length": 3681,
"cds_start": 9638,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 9838,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9626-4_9631delGTAGACCTTT",
"hgvs_p": "p.Tyr3209_Leu3210del",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 3209,
"aa_end": null,
"aa_length": 3677,
"cds_start": 9626,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 9754,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.9281-4_9286delGTAGACCTTT",
"hgvs_p": "p.Tyr3094_Leu3095del",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 3094,
"aa_end": null,
"aa_length": 3562,
"cds_start": 9281,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 9989,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5627-4_5632delGTAGACCTTT",
"hgvs_p": "p.Tyr1876_Leu1877del",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 2344,
"cds_start": 5627,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 5651,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5618-4_5623delGTAGACCTTT",
"hgvs_p": "p.Tyr1873_Leu1874del",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 1873,
"aa_end": null,
"aa_length": 2341,
"cds_start": 5618,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 5794,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5618-4_5623delGTAGACCTTT",
"hgvs_p": "p.Tyr1873_Leu1874del",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 1873,
"aa_end": null,
"aa_length": 2341,
"cds_start": 5618,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 5803,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4496-4_4501delGTAGACCTTT",
"hgvs_p": "p.Tyr1499_Leu1500del",
"transcript": "ENST00000358062.7",
"protein_id": "ENSP00000350765.3",
"transcript_support_level": 5,
"aa_start": 1499,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4496,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 4501,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2270-4_2275delGTAGACCTTT",
"hgvs_p": "p.Tyr757_Leu758del",
"transcript": "NM_004021.3",
"protein_id": "NP_004012.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2270-4_2275delGTAGACCTTT",
"hgvs_p": "p.Tyr757_Leu758del",
"transcript": "ENST00000474231.5",
"protein_id": "ENSP00000417123.1",
"transcript_support_level": 5,
"aa_start": 757,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2270-4_2275delGTAGACCTTT",
"hgvs_p": "p.Tyr757_Leu758del",
"transcript": "NM_004022.3",
"protein_id": "NP_004013.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2270-4_2275delGTAGACCTTT",
"hgvs_p": "p.Tyr757_Leu758del",
"transcript": "ENST00000359836.5",
"protein_id": "ENSP00000352894.1",
"transcript_support_level": 5,
"aa_start": 757,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2270-4_2275delGTAGACCTTT",
"hgvs_p": "p.Tyr757_Leu758del",
"transcript": "NM_004013.3",
"protein_id": "NP_004004.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2270,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YLF",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2270-4_2275delGTAGACCTTT",
"hgvs_p": "p.Tyr757_Leu758del",
"transcript": "ENST00000378707.7",
"protein_id": "ENSP00000367979.3",
"transcript_support_level": 5,
"aa_start": 757,
"aa_end": null,
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],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.9650-4_9655delGTAGACCTTT",
"hgvs_p": "p.Tyr3217_Leu3218del"
}
],
"clinvar_disease": "Duchenne muscular dystrophy,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Duchenne muscular dystrophy|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}