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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-136207892-A-AGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136207892&ref=A&alt=AGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136207892,
"ref": "A",
"alt": "AGGG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001440769.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001159702.3",
"protein_id": "NP_001153174.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 437,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000394155.8",
"biotype": "protein_coding",
"feature": "NM_001159702.3"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "ENST00000394155.8",
"protein_id": "ENSP00000377710.2",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 437,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001159702.3",
"biotype": "protein_coding",
"feature": "ENST00000394155.8"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.482_484dupGGG",
"hgvs_p": "p.Gly161dup",
"transcript": "NM_001159699.2",
"protein_id": "NP_001153171.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 296,
"cds_start": 485,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370683.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159699.2"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.482_484dupGGG",
"hgvs_p": "p.Gly161dup",
"transcript": "ENST00000370683.6",
"protein_id": "ENSP00000359717.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 296,
"cds_start": 485,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001159699.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370683.6"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "ENST00000543669.5",
"protein_id": "ENSP00000443333.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543669.5"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.482_484dupGGG",
"hgvs_p": "p.Gly161dup",
"transcript": "NM_001440769.1",
"protein_id": "NP_001427698.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 339,
"cds_start": 485,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440769.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001369326.1",
"protein_id": "NP_001356255.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 437,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369326.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001369327.2",
"protein_id": "NP_001356256.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 437,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369327.2"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001369328.1",
"protein_id": "NP_001356257.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 437,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369328.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "ENST00000651089.1",
"protein_id": "ENSP00000498684.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 323,
"cds_start": 437,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651089.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.521_523dupGGG",
"hgvs_p": "p.Gly174dup",
"transcript": "NM_001159701.2",
"protein_id": "NP_001153173.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 309,
"cds_start": 524,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159701.2"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.521_523dupGGG",
"hgvs_p": "p.Gly174dup",
"transcript": "ENST00000539015.5",
"protein_id": "ENSP00000437673.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 309,
"cds_start": 524,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539015.5"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.479_481dupGGG",
"hgvs_p": "p.Gly160dup",
"transcript": "ENST00000862285.1",
"protein_id": "ENSP00000532344.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 295,
"cds_start": 482,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862285.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.479_481dupGGG",
"hgvs_p": "p.Gly160dup",
"transcript": "ENST00000952767.1",
"protein_id": "ENSP00000622826.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 295,
"cds_start": 482,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952767.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001159700.2",
"protein_id": "NP_001153172.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159700.2"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001159704.1",
"protein_id": "NP_001153176.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159704.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001167819.1",
"protein_id": "NP_001161291.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167819.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001369329.1",
"protein_id": "NP_001356258.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369329.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001369330.1",
"protein_id": "NP_001356259.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369330.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001369331.1",
"protein_id": "NP_001356260.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369331.1"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "NM_001449.5",
"protein_id": "NP_001440.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 280,
"cds_start": 437,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001449.5"
},
{
"aa_ref": "E",
"aa_alt": "GE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.434_436dupGGG",
"hgvs_p": "p.Gly145dup",
"transcript": "ENST00000394153.6",
"protein_id": "ENSP00000377709.2",
"transcript_support_level": 5,
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],
"gene_symbol": "FHL1",
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"hom_count_reference_population": 5,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
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"phylop100way_score": 6.843,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PM4_Supporting,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
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"PM4_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001440769.1",
"gene_symbol": "FHL1",
"hgnc_id": 3702,
"effects": [
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],
"inheritance_mode": "XL",
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"hgvs_p": "p.Gly161dup"
}
],
"clinvar_disease": "X-linked myopathy with postural muscle atrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "X-linked myopathy with postural muscle atrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}