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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: 2-101697929-C-CCCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101697929&ref=C&alt=CCCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101697929,
"ref": "C",
"alt": "CCCG",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001395002.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001395002.1",
"protein_id": "NP_001381931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": null,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324219.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395002.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "ENST00000324219.9",
"protein_id": "ENSP00000313644.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": null,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395002.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324219.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "ENST00000350878.9",
"protein_id": "ENSP00000343658.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1273,
"cds_start": null,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350878.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384497.1",
"protein_id": "NP_001371426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1381,
"cds_start": null,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384492.1",
"protein_id": "NP_001371421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": null,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384493.1",
"protein_id": "NP_001371422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1330,
"cds_start": null,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384477.1",
"protein_id": "NP_001371406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1328,
"cds_start": null,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384506.1",
"protein_id": "NP_001371435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": null,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384481.1",
"protein_id": "NP_001371410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": null,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384486.1",
"protein_id": "NP_001371415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": null,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384486.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384488.1",
"protein_id": "NP_001371417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
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"cds_length": 3921,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001384488.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "ENST00000902131.1",
"protein_id": "ENSP00000572190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"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": "ENST00000902131.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "ENST00000971084.1",
"protein_id": "ENSP00000641143.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1303,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000971084.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "MAP4K4",
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"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384548.1",
"protein_id": "NP_001371477.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384548.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384487.1",
"protein_id": "NP_001371416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"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": "NM_001384487.1"
},
{
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"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
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"transcript": "NM_001384509.1",
"protein_id": "NP_001371438.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001384509.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384543.1",
"protein_id": "NP_001371472.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001384543.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384520.1",
"protein_id": "NP_001371449.1",
"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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"biotype": "protein_coding",
"feature": "NM_001384520.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
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"transcript": "NM_001384485.1",
"protein_id": "NP_001371414.1",
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"biotype": "protein_coding",
"feature": "NM_001384485.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_145686.4",
"protein_id": "NP_663719.2",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_145686.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384484.1",
"protein_id": "NP_001371413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"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_001384484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.-140_-138dupGCC",
"hgvs_p": null,
"transcript": "NM_001384476.1",
"protein_id": "NP_001371405.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1265,
"cds_start": null,
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"cds_length": 3798,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384476.1"
},
{
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}