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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-136209921-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136209921&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136209921,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000370683.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"transcript": "NM_001159699.2",
"protein_id": "NP_001153171.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 296,
"cds_start": 787,
"cds_end": null,
"cds_length": 891,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "ENST00000370683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"transcript": "ENST00000370683.6",
"protein_id": "ENSP00000359717.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 296,
"cds_start": 787,
"cds_end": null,
"cds_length": 891,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "NM_001159699.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000543669.5",
"protein_id": "ENSP00000443333.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Thr313Thr",
"transcript": "NM_001159702.3",
"protein_id": "NP_001153174.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 323,
"cds_start": 939,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "ENST00000394155.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Thr313Thr",
"transcript": "ENST00000394155.8",
"protein_id": "ENSP00000377710.2",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 323,
"cds_start": 939,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "NM_001159702.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "NM_001159701.2",
"protein_id": "NP_001153173.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 309,
"cds_start": 826,
"cds_end": null,
"cds_length": 930,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "ENST00000539015.5",
"protein_id": "ENSP00000437673.1",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 309,
"cds_start": 826,
"cds_end": null,
"cds_length": 930,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001159700.2",
"protein_id": "NP_001153172.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001159704.1",
"protein_id": "NP_001153176.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001167819.1",
"protein_id": "NP_001161291.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001369329.1",
"protein_id": "NP_001356258.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001369330.1",
"protein_id": "NP_001356259.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001369331.1",
"protein_id": "NP_001356260.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "NM_001449.5",
"protein_id": "NP_001440.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000394153.6",
"protein_id": "ENSP00000377709.2",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000535737.5",
"protein_id": "ENSP00000444815.1",
"transcript_support_level": 3,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000628568.1",
"protein_id": "ENSP00000486782.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000628919.3",
"protein_id": "ENSP00000487147.2",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000629039.2",
"protein_id": "ENSP00000486439.1",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000630084.2",
"protein_id": "ENSP00000485897.1",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000651929.2",
"protein_id": "ENSP00000499016.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 280,
"cds_start": 739,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Asp247Asn",
"transcript": "ENST00000370674.3",
"protein_id": "ENSP00000359708.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 256,
"cds_start": 739,
"cds_end": null,
"cds_length": 772,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
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],
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"dbsnp": "rs754308516",
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"computational_score_selected": 0.3066551685333252,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7131,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.756,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
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"BP4",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000370683.6",
"gene_symbol": "FHL1",
"hgnc_id": 3702,
"effects": [
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],
"inheritance_mode": "XL",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn"
}
],
"clinvar_disease": " X-linked, childhood-onset, early-onset, reducing body, severe,Cardiovascular phenotype,Myopathy,Uruguay Faciocardiomusculoskeletal syndrome,X-linked myopathy with postural muscle atrophy,X-linked scapuloperoneal muscular dystrophy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|X-linked myopathy with postural muscle atrophy|Cardiovascular phenotype|Myopathy, reducing body, X-linked, childhood-onset;Myopathy, reducing body, X-linked, early-onset, severe;X-linked myopathy with postural muscle atrophy;Uruguay Faciocardiomusculoskeletal syndrome;X-linked scapuloperoneal muscular dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}