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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: 14-104701679-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104701679&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104701679,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000392634.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_022489.4",
"protein_id": "NP_071934.3",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1249,
"cds_start": 314,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": "ENST00000392634.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000392634.9",
"protein_id": "ENSP00000376410.4",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 1249,
"cds_start": 314,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": "NM_022489.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000398337.8",
"protein_id": "ENSP00000381380.4",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 234,
"cds_start": 314,
"cds_end": null,
"cds_length": 705,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.314T>A",
"hgvs_p": null,
"transcript": "ENST00000617571.5",
"protein_id": "ENSP00000483829.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Glu",
"transcript": "ENST00000675207.1",
"protein_id": "ENSP00000502644.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 1281,
"cds_start": 410,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426862.1",
"protein_id": "NP_001413791.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1268,
"cds_start": 314,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 7650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000675980.1",
"protein_id": "ENSP00000502520.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1255,
"cds_start": 314,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000675481.1",
"protein_id": "ENSP00000502723.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1250,
"cds_start": 314,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426863.1",
"protein_id": "NP_001413792.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1249,
"cds_start": 314,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426864.1",
"protein_id": "NP_001413793.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1249,
"cds_start": 314,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000675329.1",
"protein_id": "ENSP00000502287.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1241,
"cds_start": 314,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001031714.4",
"protein_id": "NP_001026884.3",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1240,
"cds_start": 314,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426865.1",
"protein_id": "NP_001413794.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1240,
"cds_start": 314,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000330634.11",
"protein_id": "ENSP00000376406.3",
"transcript_support_level": 5,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000675638.1",
"protein_id": "ENSP00000501647.1",
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"aa_start": 105,
"aa_end": null,
"aa_length": 1222,
"cds_start": 314,
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"cds_length": 3669,
"cdna_start": 314,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000674991.1",
"protein_id": "ENSP00000502004.1",
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"aa_start": 105,
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"cdna_start": 314,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426866.1",
"protein_id": "NP_001413795.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 234,
"cds_start": 314,
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"cdna_start": 698,
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"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426867.1",
"protein_id": "NP_001413796.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 234,
"cds_start": 314,
"cds_end": null,
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"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_001426868.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "NM_032714.3",
"protein_id": "NP_116103.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 234,
"cds_start": 314,
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"cdna_start": 445,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000674723.1",
"protein_id": "ENSP00000502257.1",
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"aa_start": 105,
"aa_end": null,
"aa_length": 129,
"cds_start": 314,
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"cdna_start": 854,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000674869.1",
"protein_id": "ENSP00000501558.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 129,
"cds_start": 314,
"cds_end": null,
"cds_length": 391,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu",
"transcript": "ENST00000675482.1",
"protein_id": "ENSP00000501798.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 129,
"cds_start": 314,
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"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000392634.9",
"gene_symbol": "INF2",
"hgnc_id": 23791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.314T>A",
"hgvs_p": "p.Val105Glu"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate E,Focal segmental glomerulosclerosis 5",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}