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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: 7-30469376-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30469376&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30469376,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_006092.4",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-352+9230G>T",
"hgvs_p": null,
"transcript": "NM_006092.4",
"protein_id": "NP_006083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222823.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006092.4"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-352+9230G>T",
"hgvs_p": null,
"transcript": "ENST00000222823.9",
"protein_id": "ENSP00000222823.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006092.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222823.9"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-352+6472G>T",
"hgvs_p": null,
"transcript": "ENST00000411552.5",
"protein_id": "ENSP00000396046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411552.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-427-5315G>T",
"hgvs_p": null,
"transcript": "ENST00000413433.5",
"protein_id": "ENSP00000399505.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413433.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-441-5678G>T",
"hgvs_p": null,
"transcript": "ENST00000419799.5",
"protein_id": "ENSP00000395551.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419799.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-263+9230G>T",
"hgvs_p": null,
"transcript": "ENST00000419601.1",
"protein_id": "ENSP00000410917.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419601.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-514-5678G>T",
"hgvs_p": null,
"transcript": "ENST00000855556.1",
"protein_id": "ENSP00000525615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855556.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-550+9230G>T",
"hgvs_p": null,
"transcript": "ENST00000855558.1",
"protein_id": "ENSP00000525617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855558.1"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-441-5678G>T",
"hgvs_p": null,
"transcript": "ENST00000931851.1",
"protein_id": "ENSP00000601910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931851.1"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-514-5678G>T",
"hgvs_p": null,
"transcript": "ENST00000955992.1",
"protein_id": "ENSP00000626051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
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"cds_length": 2862,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955992.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-211-5678G>T",
"hgvs_p": null,
"transcript": "ENST00000955994.1",
"protein_id": "ENSP00000626053.1",
"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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"feature": "ENST00000955994.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "NOD1",
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"hgvs_c": "c.-122+9230G>T",
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"transcript": "ENST00000955996.1",
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "NOD1",
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"hgvs_c": "c.-352-5678G>T",
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"transcript": "ENST00000955997.1",
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"feature": "ENST00000955997.1"
},
{
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],
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"gene_symbol": "NOD1",
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},
{
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "NOD1",
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"hgvs_c": "c.-352+9230G>T",
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"transcript": "ENST00000855559.1",
"protein_id": "ENSP00000525618.1",
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},
{
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],
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"gene_symbol": "NOD1",
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},
{
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],
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"gene_symbol": "NOD1",
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"hgvs_c": "c.-441-5678G>T",
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"transcript": "ENST00000955991.1",
"protein_id": "ENSP00000626050.1",
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},
{
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-352+9230G>T",
"hgvs_p": null,
"transcript": "ENST00000955988.1",
"protein_id": "ENSP00000626047.1",
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},
{
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],
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"gene_symbol": "NOD1",
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"hgvs_c": "c.-352+9230G>T",
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},
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],
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},
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],
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"biotype": "protein_coding",
"feature": "ENST00000855554.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOD1",
"gene_hgnc_id": 16390,
"hgvs_c": "c.-352+9230G>T",
"hgvs_p": null,
"transcript": "ENST00000955989.1",
"protein_id": "ENSP00000626048.1",
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"cdna_start": null,
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"feature": "ENST00000955989.1"
},
{
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"consequences": [
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],
"exon_rank": null,
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