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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-136206434-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136206434&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136206434,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000370683.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001159702.3",
"protein_id": "NP_001153174.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 323,
"cds_start": 2,
"cds_end": null,
"cds_length": 972,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "ENST00000394155.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000394155.8",
"protein_id": "ENSP00000377710.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 323,
"cds_start": 2,
"cds_end": null,
"cds_length": 972,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "NM_001159702.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000543669.5",
"protein_id": "ENSP00000443333.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Met17Thr",
"transcript": "NM_001159699.2",
"protein_id": "NP_001153171.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 296,
"cds_start": 50,
"cds_end": null,
"cds_length": 891,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "ENST00000370683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Met17Thr",
"transcript": "ENST00000370683.6",
"protein_id": "ENSP00000359717.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 296,
"cds_start": 50,
"cds_end": null,
"cds_length": 891,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "NM_001159699.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001369326.1",
"protein_id": "NP_001356255.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 323,
"cds_start": 2,
"cds_end": null,
"cds_length": 972,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001369327.2",
"protein_id": "NP_001356256.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 323,
"cds_start": 2,
"cds_end": null,
"cds_length": 972,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001369328.1",
"protein_id": "NP_001356257.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 323,
"cds_start": 2,
"cds_end": null,
"cds_length": 972,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000651089.1",
"protein_id": "ENSP00000498684.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 323,
"cds_start": 2,
"cds_end": null,
"cds_length": 972,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001159700.2",
"protein_id": "NP_001153172.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001159704.1",
"protein_id": "NP_001153176.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001167819.1",
"protein_id": "NP_001161291.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001369329.1",
"protein_id": "NP_001356258.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001369330.1",
"protein_id": "NP_001356259.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
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"cdna_start": 128,
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"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001369331.1",
"protein_id": "NP_001356260.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001449.5",
"protein_id": "NP_001440.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
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"cdna_start": 198,
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"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000394153.6",
"protein_id": "ENSP00000377709.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000535737.5",
"protein_id": "ENSP00000444815.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
"cds_end": null,
"cds_length": 843,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000628568.1",
"protein_id": "ENSP00000486782.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
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"cds_start": 2,
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"cdna_start": 134,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000628919.3",
"protein_id": "ENSP00000487147.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
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"cdna_start": 339,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000629039.2",
"protein_id": "ENSP00000486439.1",
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"aa_start": 1,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000630084.2",
"protein_id": "ENSP00000485897.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
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"cds_length": 843,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000651929.2",
"protein_id": "ENSP00000499016.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 280,
"cds_start": 2,
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],
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "X-linked myopathy with postural muscle atrophy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}