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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: 2-219420658-TGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219420658&ref=TGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219420658,
"ref": "TGG",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001927.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+4_897+5delGG",
"hgvs_p": null,
"transcript": "NM_001927.4",
"protein_id": "NP_001918.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373960.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001927.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000373960.4",
"protein_id": "ENSP00000363071.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373960.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942906.1",
"protein_id": "ENSP00000612965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942898.1",
"protein_id": "ENSP00000612957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000869000.1",
"protein_id": "ENSP00000539059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869000.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868999.1",
"protein_id": "ENSP00000539058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942903.1",
"protein_id": "ENSP00000612962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868989.1",
"protein_id": "ENSP00000539048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": null,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868993.1",
"protein_id": "ENSP00000539052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868996.1",
"protein_id": "ENSP00000539055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
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"cds_length": 1434,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868996.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.915+3_915+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868997.1",
"protein_id": "ENSP00000539056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868997.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.894+4_894+5delGG",
"hgvs_p": null,
"transcript": "NM_001382708.1",
"protein_id": "NP_001369637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cds_length": 1410,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001382708.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.894+3_894+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868992.1",
"protein_id": "ENSP00000539051.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 469,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.885+3_885+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942892.1",
"protein_id": "ENSP00000612951.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942892.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942901.1",
"protein_id": "ENSP00000612960.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000942901.1"
},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+4_897+5delGG",
"hgvs_p": null,
"transcript": "NM_001382712.1",
"protein_id": "NP_001369641.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382712.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.879+3_879+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868990.1",
"protein_id": "ENSP00000539049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
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"cds_length": 1395,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868990.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942893.1",
"protein_id": "ENSP00000612952.1",
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"feature": "ENST00000942893.1"
},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
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"hgvs_c": "c.897+4_897+5delGG",
"hgvs_p": null,
"transcript": "NM_001382711.1",
"protein_id": "NP_001369640.1",
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"biotype": "protein_coding",
"feature": "NM_001382711.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "DES",
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"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000868998.1",
"protein_id": "ENSP00000539057.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868998.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942891.1",
"protein_id": "ENSP00000612950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.897+3_897+4delGG",
"hgvs_p": null,
"transcript": "ENST00000942894.1",
"protein_id": "ENSP00000612953.1",
"transcript_support_level": null,
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{
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"verdict": "Benign",
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"clinvar_disease": " Dominant, Kaeser type,Cardiomyopathy,Cardiovascular phenotype,DES-related disorder,Desmin-related myofibrillar myopathy,Dilated Cardiomyopathy,Dilated cardiomyopathy 1I,Myofibrillar Myopathy,Neurogenic scapuloperoneal syndrome,Scapuloperoneal weakness,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:10",
"phenotype_combined": "not specified|Desmin-related myofibrillar myopathy|Myofibrillar Myopathy, Dominant|Scapuloperoneal weakness|Dilated Cardiomyopathy, Dominant|Cardiomyopathy|Dilated cardiomyopathy 1I|Cardiovascular phenotype|Desmin-related myofibrillar myopathy;Dilated cardiomyopathy 1I;Neurogenic scapuloperoneal syndrome, Kaeser type|not provided|DES-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}