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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: 2-110972936-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=110972936&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 110972936,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000439055.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1060-14172C>T",
"hgvs_p": null,
"transcript": "NM_001142807.4",
"protein_id": "NP_001136279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": "ENST00000439055.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1060-14172C>T",
"hgvs_p": null,
"transcript": "ENST00000439055.6",
"protein_id": "ENSP00000407761.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": "NM_001142807.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.574-14172C>T",
"hgvs_p": null,
"transcript": "ENST00000417074.5",
"protein_id": "ENSP00000387832.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1149+9223C>T",
"hgvs_p": null,
"transcript": "NM_001437600.1",
"protein_id": "NP_001424529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1149+9223C>T",
"hgvs_p": null,
"transcript": "ENST00000676595.2",
"protein_id": "ENSP00000503683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1149+9223C>T",
"hgvs_p": null,
"transcript": "NM_001371254.1",
"protein_id": "NP_001358183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1149+9223C>T",
"hgvs_p": null,
"transcript": "ENST00000389811.8",
"protein_id": "ENSP00000374461.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.354+9223C>T",
"hgvs_p": null,
"transcript": "ENST00000433706.5",
"protein_id": "ENSP00000406774.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "n.90+9223C>T",
"hgvs_p": null,
"transcript": "ENST00000443586.5",
"protein_id": "ENSP00000409500.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 668,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 19,
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"intron_rank_end": null,
"gene_symbol": "ACOXL",
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"hgvs_c": "c.1149+9223C>T",
"hgvs_p": null,
"transcript": "XM_011511405.4",
"protein_id": "XP_011509707.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
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"gene_symbol": "ACOXL",
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"hgvs_c": "c.1149+9223C>T",
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"transcript": "XM_011511406.4",
"protein_id": "XP_011509708.1",
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},
{
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],
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},
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],
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"gene_symbol": "ACOXL",
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],
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],
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},
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],
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"gene_symbol": "ACOXL",
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},
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],
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"gene_symbol": "ACOXL",
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"transcript": "XM_011511415.3",
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],
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"gene_symbol": "ACOXL",
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"transcript": "XM_011511419.3",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ACOXL",
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"hgvs_c": "c.1149+9223C>T",
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"transcript": "XM_011511421.3",
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