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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: 2-240555596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240555596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240555596,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000401804.6",
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "NM_001282771.3",
"protein_id": "NP_001269700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": "ENST00000401804.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "ENST00000401804.6",
"protein_id": "ENSP00000385887.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": -4,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": "NM_001282771.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.-121-541G>A",
"hgvs_p": null,
"transcript": "ENST00000272972.7",
"protein_id": "ENSP00000272972.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.384-541G>A",
"hgvs_p": null,
"transcript": "ENST00000403283.6",
"protein_id": "ENSP00000383968.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "ENST00000373318.6",
"protein_id": "ENSP00000362415.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": -4,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "ENST00000361678.8",
"protein_id": "ENSP00000355097.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": -4,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "ENST00000406958.5",
"protein_id": "ENSP00000384555.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": -4,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "ENST00000405523.7",
"protein_id": "ENSP00000385635.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.-121-541G>A",
"hgvs_p": null,
"transcript": "ENST00000405002.6",
"protein_id": "ENSP00000385145.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "n.716-541G>A",
"hgvs_p": null,
"transcript": "ENST00000464991.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.147-541G>A",
"hgvs_p": null,
"transcript": "NM_001354023.3",
"protein_id": "NP_001340952.1",
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"aa_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "ANKMY1",
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"hgvs_c": "c.63-541G>A",
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"transcript": "NM_001393462.1",
"protein_id": "NP_001380391.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ANKMY1",
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"hgvs_c": "c.-121-541G>A",
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"transcript": "NM_016552.5",
"protein_id": "NP_057636.2",
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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": "ANKMY1",
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"hgvs_c": "c.-121-541G>A",
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"transcript": "NM_001354024.3",
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},
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],
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"gene_symbol": "ANKMY1",
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"transcript": "NM_001308375.4",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ANKMY1",
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"hgvs_c": "c.-121-541G>A",
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"transcript": "NM_001393463.1",
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},
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],
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"gene_symbol": "ANKMY1",
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"hgvs_c": "c.6-541G>A",
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"transcript": "NM_001393464.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ANKMY1",
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"hgvs_c": "c.-121-541G>A",
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"transcript": "NM_001393465.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ANKMY1",
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],
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"gene_symbol": "ANKMY1",
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "ANKMY1",
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"hgvs_c": "c.147-541G>A",
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"transcript": "NM_001282781.2",
"protein_id": "NP_001269710.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.-121-541G>A",
"hgvs_p": null,
"transcript": "NM_001393467.1",
"protein_id": "NP_001380396.1",
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}
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}