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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: 8-17246633-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17246633&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17246633,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001322093.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "NM_013354.7",
"protein_id": "NP_037486.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361272.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013354.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000361272.9",
"protein_id": "ENSP00000355279.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013354.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361272.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "NM_001322093.2",
"protein_id": "NP_001309022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322093.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000851024.1",
"protein_id": "ENSP00000521093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-171+42G>A",
"hgvs_p": null,
"transcript": "NM_001322090.2",
"protein_id": "NP_001309019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322090.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+851G>A",
"hgvs_p": null,
"transcript": "ENST00000851025.1",
"protein_id": "ENSP00000521094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-171+42G>A",
"hgvs_p": null,
"transcript": "ENST00000880739.1",
"protein_id": "ENSP00000550798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+1080G>A",
"hgvs_p": null,
"transcript": "ENST00000880743.1",
"protein_id": "ENSP00000550802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+156G>A",
"hgvs_p": null,
"transcript": "ENST00000880745.1",
"protein_id": "ENSP00000550804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000880746.1",
"protein_id": "ENSP00000550805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "NM_001322094.2",
"protein_id": "NP_001309023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322094.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-171+42G>A",
"hgvs_p": null,
"transcript": "NM_001322087.2",
"protein_id": "NP_001309016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
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"cds_length": 735,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322087.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "NM_054026.4",
"protein_id": "NP_473367.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"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_054026.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000523917.5",
"protein_id": "ENSP00000429093.1",
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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": "ENST00000523917.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000880744.1",
"protein_id": "ENSP00000550803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
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"cds_length": 696,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880744.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-443+42G>A",
"hgvs_p": null,
"transcript": "NM_001322095.2",
"protein_id": "NP_001309024.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322095.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-520+42G>A",
"hgvs_p": null,
"transcript": "NM_001322096.2",
"protein_id": "NP_001309025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322096.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-443+42G>A",
"hgvs_p": null,
"transcript": "NM_001322098.2",
"protein_id": "NP_001309027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
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"cds_length": 492,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322098.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "c.-520+42G>A",
"hgvs_p": null,
"transcript": "NM_001322099.2",
"protein_id": "NP_001309028.1",
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"biotype": "protein_coding",
"feature": "NM_001322099.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "n.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000518021.5",
"protein_id": "ENSP00000428783.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518021.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "n.-96+42G>A",
"hgvs_p": null,
"transcript": "ENST00000519954.5",
"protein_id": "ENSP00000429632.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519954.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT7",
"gene_hgnc_id": 14101,
"hgvs_c": "n.191+42G>A",
"hgvs_p": null,
"transcript": "ENST00000523649.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000523649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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}