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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: 13-101868822-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101868822&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 101868822,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000376143.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "NM_004115.4",
"protein_id": "NP_004106.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 247,
"cds_start": 311,
"cds_end": null,
"cds_length": 744,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 13071,
"mane_select": "ENST00000376143.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser",
"transcript": "ENST00000376143.5",
"protein_id": "ENSP00000365313.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 247,
"cds_start": 311,
"cds_end": null,
"cds_length": 744,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 13071,
"mane_select": "NM_004115.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Phe109Ser",
"transcript": "ENST00000376131.9",
"protein_id": "ENSP00000365301.3",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 252,
"cds_start": 326,
"cds_end": null,
"cds_length": 759,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 13156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Phe109Ser",
"transcript": "NM_175929.3",
"protein_id": "NP_787125.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 252,
"cds_start": 326,
"cds_end": null,
"cds_length": 759,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 13156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Phe72Ser",
"transcript": "NM_001321939.2",
"protein_id": "NP_001308868.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 215,
"cds_start": 215,
"cds_end": null,
"cds_length": 648,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 13045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Phe70Ser",
"transcript": "NM_001321945.2",
"protein_id": "NP_001308874.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 213,
"cds_start": 209,
"cds_end": null,
"cds_length": 642,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 13027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Phe70Ser",
"transcript": "NM_001321948.2",
"protein_id": "NP_001308877.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 213,
"cds_start": 209,
"cds_end": null,
"cds_length": 642,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 13023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Phe70Ser",
"transcript": "NM_001379342.1",
"protein_id": "NP_001366271.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 213,
"cds_start": 209,
"cds_end": null,
"cds_length": 642,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 13014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Phe70Ser",
"transcript": "ENST00000418923.3",
"protein_id": "ENSP00000516414.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 213,
"cds_start": 209,
"cds_end": null,
"cds_length": 642,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.170T>C",
"hgvs_p": "p.Phe57Ser",
"transcript": "NM_001321947.2",
"protein_id": "NP_001308876.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 200,
"cds_start": 170,
"cds_end": null,
"cds_length": 603,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 12951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Phe44Ser",
"transcript": "NM_001321933.1",
"protein_id": "NP_001308862.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 187,
"cds_start": 131,
"cds_end": null,
"cds_length": 564,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Phe44Ser",
"transcript": "NM_001321938.2",
"protein_id": "NP_001308867.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 187,
"cds_start": 131,
"cds_end": null,
"cds_length": 564,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 13433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Phe44Ser",
"transcript": "NM_001321940.1",
"protein_id": "NP_001308869.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 187,
"cds_start": 131,
"cds_end": null,
"cds_length": 564,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Phe42Ser",
"transcript": "NM_001321941.2",
"protein_id": "NP_001308870.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 185,
"cds_start": 125,
"cds_end": null,
"cds_length": 558,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 13223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Phe41Ser",
"transcript": "NM_001321932.1",
"protein_id": "NP_001308861.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 184,
"cds_start": 122,
"cds_end": null,
"cds_length": 555,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Phe41Ser",
"transcript": "NM_001321936.1",
"protein_id": "NP_001308865.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 184,
"cds_start": 122,
"cds_end": null,
"cds_length": 555,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Phe41Ser",
"transcript": "NM_001321944.1",
"protein_id": "NP_001308873.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 184,
"cds_start": 122,
"cds_end": null,
"cds_length": 555,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001321931.1",
"protein_id": "NP_001308860.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 163,
"cds_start": 59,
"cds_end": null,
"cds_length": 492,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001321934.1",
"protein_id": "NP_001308863.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 163,
"cds_start": 59,
"cds_end": null,
"cds_length": 492,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001321935.1",
"protein_id": "NP_001308864.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 163,
"cds_start": 59,
"cds_end": null,
"cds_length": 492,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001321942.1",
"protein_id": "NP_001308871.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 163,
"cds_start": 59,
"cds_end": null,
"cds_length": 492,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001321943.1",
"protein_id": "NP_001308872.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 163,
"cds_start": 59,
"cds_end": null,
"cds_length": 492,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001321946.2",
"protein_id": "NP_001308875.1",
"transcript_support_level": null,
"aa_start": 20,
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},
{
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},
{
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}
],
"gene_symbol": "FGF14",
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"dbsnp": "rs1555301921",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9699892401695251,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.952,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000376143.5",
"gene_symbol": "FGF14",
"hgnc_id": 3671,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Phe104Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}