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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: 14-77441074-CTTCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77441074&ref=CTTCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77441074,
"ref": "CTTCTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000557658.6",
"consequences": [
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001193315.2",
"protein_id": "NP_001180244.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": "ENST00000557658.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "ENST00000557658.6",
"protein_id": "ENSP00000452191.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": "NM_001193315.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "ENST00000343765.6",
"protein_id": "ENSP00000339122.2",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.827_831delCAGAA",
"hgvs_p": "p.Thr276fs",
"transcript": "ENST00000556412.4",
"protein_id": "ENSP00000451857.1",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 519,
"cds_start": 827,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001193314.2",
"protein_id": "NP_001180243.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001193317.2",
"protein_id": "NP_001180246.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001400326.1",
"protein_id": "NP_001387255.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_022067.4",
"protein_id": "NP_071350.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "ENST00000553888.5",
"protein_id": "ENSP00000452181.1",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 493,
"cds_start": 749,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.716_720delCAGAA",
"hgvs_p": "p.Thr239fs",
"transcript": "NM_001400327.1",
"protein_id": "NP_001387256.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 482,
"cds_start": 716,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001400330.1",
"protein_id": "NP_001387259.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 464,
"cds_start": 749,
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"cds_length": 1395,
"cdna_start": 860,
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"cdna_length": 2443,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001400331.1",
"protein_id": "NP_001387260.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 464,
"cds_start": 749,
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"cdna_start": 1260,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001400332.1",
"protein_id": "NP_001387261.1",
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"aa_length": 464,
"cds_start": 749,
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"cdna_start": 1131,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.656_660delCAGAA",
"hgvs_p": "p.Thr219fs",
"transcript": "NM_001400333.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.656_660delCAGAA",
"hgvs_p": "p.Thr219fs",
"transcript": "NM_001400334.1",
"protein_id": "NP_001387263.1",
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"aa_end": null,
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"cds_start": 656,
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"cdna_start": 1038,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001400335.1",
"protein_id": "NP_001387264.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.749_753delCAGAA",
"hgvs_p": "p.Thr250fs",
"transcript": "NM_001400336.1",
"protein_id": "NP_001387265.1",
"transcript_support_level": null,
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"cds_start": 749,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.602_606delCAGAA",
"hgvs_p": "p.Thr201fs",
"transcript": "NM_001193316.2",
"protein_id": "NP_001180245.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 444,
"cds_start": 602,
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"cdna_start": 713,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "VIPAS39",
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"hgvs_c": "c.602_606delCAGAA",
"hgvs_p": "p.Thr201fs",
"transcript": "NM_001400324.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
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"hgvs_c": "c.602_606delCAGAA",
"hgvs_p": "p.Thr201fs",
"transcript": "NM_001400325.1",
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},
{
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"consequences": [
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],
"exon_rank": 11,
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"intron_rank": null,
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"gene_symbol": "VIPAS39",
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"hgvs_c": "c.602_606delCAGAA",
"hgvs_p": "p.Thr201fs",
"transcript": "ENST00000327028.8",
"protein_id": "ENSP00000313098.5",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 444,
"cds_start": 602,
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"cdna_start": 944,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.602_606delCAGAA",
"hgvs_p": "p.Thr201fs",
"transcript": "ENST00000448935.6",
"protein_id": "ENSP00000404815.2",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 444,
"cds_start": 602,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 698,
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"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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}
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{
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],
"clinvar_disease": " and cholestasis 2, renal dysfunction,Arthrogryposis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Arthrogryposis, renal dysfunction, and cholestasis 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}