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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: 12-123000641-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123000641&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123000641,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000320201.10",
"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": 26,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_020845.3",
"protein_id": "NP_065896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": "ENST00000320201.10",
"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": 26,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "ENST00000320201.10",
"protein_id": "ENSP00000322218.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": "NM_020845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "n.1464+137T>A",
"hgvs_p": null,
"transcript": "ENST00000451868.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"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": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001384660.1",
"protein_id": "NP_001371589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": -4,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7031,
"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": 26,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001300801.2",
"protein_id": "NP_001287730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7116,
"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": 26,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001384668.1",
"protein_id": "NP_001371597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7152,
"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": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "ENST00000280562.9",
"protein_id": "ENSP00000280562.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6785,
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001384661.1",
"protein_id": "NP_001371590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6972,
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001384663.1",
"protein_id": "NP_001371592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": -4,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7008,
"mane_select": null,
"mane_plus": null,
"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": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001384662.1",
"protein_id": "NP_001371591.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1292,
"cds_start": -4,
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"cds_length": 3879,
"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,
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"exon_count": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
"hgvs_p": null,
"transcript": "NM_001384664.1",
"protein_id": "NP_001371593.1",
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.1338+137T>A",
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"transcript": "ENST00000546049.5",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 9,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1224+137T>A",
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"transcript": "NM_001384665.1",
"protein_id": "NP_001371594.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.1224+137T>A",
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"transcript": "NM_001384666.1",
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},
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],
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.1224+137T>A",
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"transcript": "NM_001384667.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "PITPNM2",
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"hgvs_c": "n.1153+137T>A",
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"transcript": "ENST00000436074.6",
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},
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],
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.1224+137T>A",
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"transcript": "XM_024449099.2",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.1224+137T>A",
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"transcript": "XM_047429200.1",
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],
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"gene_symbol": "PITPNM2",
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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": 10,
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"gene_symbol": "PITPNM2",
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"hgvs_c": "c.1242+137T>A",
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"transcript": "XM_047429204.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.1026+137T>A",
"hgvs_p": null,
"transcript": "XM_024449100.2",
"protein_id": "XP_024304868.1",
"transcript_support_level": null,
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