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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: 13-101726785-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101726785&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 101726785,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Phe145Ser",
"transcript": "NM_004115.4",
"protein_id": "NP_004106.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 247,
"cds_start": 434,
"cds_end": null,
"cds_length": 744,
"cdna_start": 734,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Phe145Ser",
"transcript": "ENST00000376143.5",
"protein_id": "ENSP00000365313.4",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 247,
"cds_start": 434,
"cds_end": null,
"cds_length": 744,
"cdna_start": 734,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Phe150Ser",
"transcript": "ENST00000376131.9",
"protein_id": "ENSP00000365301.3",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 252,
"cds_start": 449,
"cds_end": null,
"cds_length": 759,
"cdna_start": 819,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Phe150Ser",
"transcript": "NM_175929.3",
"protein_id": "NP_787125.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 252,
"cds_start": 449,
"cds_end": null,
"cds_length": 759,
"cdna_start": 819,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Phe113Ser",
"transcript": "NM_001321939.2",
"protein_id": "NP_001308868.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 215,
"cds_start": 338,
"cds_end": null,
"cds_length": 648,
"cdna_start": 708,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Phe111Ser",
"transcript": "NM_001321945.2",
"protein_id": "NP_001308874.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": 690,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Phe111Ser",
"transcript": "NM_001321948.2",
"protein_id": "NP_001308877.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": 686,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Phe111Ser",
"transcript": "NM_001379342.1",
"protein_id": "NP_001366271.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": 677,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Phe111Ser",
"transcript": "ENST00000418923.3",
"protein_id": "ENSP00000516414.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": 700,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.293T>C",
"hgvs_p": "p.Phe98Ser",
"transcript": "NM_001321947.2",
"protein_id": "NP_001308876.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 200,
"cds_start": 293,
"cds_end": null,
"cds_length": 603,
"cdna_start": 614,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Phe85Ser",
"transcript": "NM_001321933.1",
"protein_id": "NP_001308862.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 187,
"cds_start": 254,
"cds_end": null,
"cds_length": 564,
"cdna_start": 694,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Phe85Ser",
"transcript": "NM_001321938.2",
"protein_id": "NP_001308867.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 187,
"cds_start": 254,
"cds_end": null,
"cds_length": 564,
"cdna_start": 1096,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Phe85Ser",
"transcript": "NM_001321940.1",
"protein_id": "NP_001308869.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 187,
"cds_start": 254,
"cds_end": null,
"cds_length": 564,
"cdna_start": 1040,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Phe83Ser",
"transcript": "NM_001321941.2",
"protein_id": "NP_001308870.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 185,
"cds_start": 248,
"cds_end": null,
"cds_length": 558,
"cdna_start": 886,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Phe82Ser",
"transcript": "NM_001321932.1",
"protein_id": "NP_001308861.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 184,
"cds_start": 245,
"cds_end": null,
"cds_length": 555,
"cdna_start": 784,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Phe82Ser",
"transcript": "NM_001321936.1",
"protein_id": "NP_001308865.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 184,
"cds_start": 245,
"cds_end": null,
"cds_length": 555,
"cdna_start": 637,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Phe82Ser",
"transcript": "NM_001321944.1",
"protein_id": "NP_001308873.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 184,
"cds_start": 245,
"cds_end": null,
"cds_length": 555,
"cdna_start": 1132,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Phe61Ser",
"transcript": "NM_001321931.1",
"protein_id": "NP_001308860.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 182,
"cds_end": null,
"cds_length": 492,
"cdna_start": 698,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Phe61Ser",
"transcript": "NM_001321934.1",
"protein_id": "NP_001308863.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 182,
"cds_end": null,
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"cdna_start": 457,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Phe61Ser",
"transcript": "NM_001321935.1",
"protein_id": "NP_001308864.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 182,
"cds_end": null,
"cds_length": 492,
"cdna_start": 310,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Phe61Ser",
"transcript": "NM_001321942.1",
"protein_id": "NP_001308871.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 182,
"cds_end": null,
"cds_length": 492,
"cdna_start": 879,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Phe61Ser",
"transcript": "NM_001321943.1",
"protein_id": "NP_001308872.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 182,
"cds_end": null,
"cds_length": 492,
"cdna_start": 916,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Phe61Ser",
"transcript": "NM_001321946.2",
"protein_id": "NP_001308875.1",
"transcript_support_level": null,
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],
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{
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"verdict": "Likely_pathogenic",
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"effects": [
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],
"clinvar_disease": "Spinocerebellar ataxia 27A",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spinocerebellar ataxia 27A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}