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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: 3-175354813-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=175354813&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 175354813,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000454872.6",
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1090+30488C>A",
"hgvs_p": null,
"transcript": "NM_207015.3",
"protein_id": "NP_996898.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": "ENST00000454872.6",
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1090+30488C>A",
"hgvs_p": null,
"transcript": "ENST00000454872.6",
"protein_id": "ENSP00000404705.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": "NM_207015.3",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "n.121-92416C>A",
"hgvs_p": null,
"transcript": "ENST00000414826.1",
"protein_id": "ENSP00000396969.1",
"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": 936,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "n.1322+30488C>A",
"hgvs_p": null,
"transcript": "ENST00000473253.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2102,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "n.829+30488C>A",
"hgvs_p": null,
"transcript": "ENST00000489299.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1574,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1120+30488C>A",
"hgvs_p": null,
"transcript": "XM_011512612.4",
"protein_id": "XP_011510914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": -4,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23637,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1069+30488C>A",
"hgvs_p": null,
"transcript": "XM_011512613.3",
"protein_id": "XP_011510915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": -4,
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"cds_length": 2367,
"cdna_start": null,
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"cdna_length": 14447,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1039+30488C>A",
"hgvs_p": null,
"transcript": "XM_006713560.4",
"protein_id": "XP_006713623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9916,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1039+30488C>A",
"hgvs_p": null,
"transcript": "XM_017006071.2",
"protein_id": "XP_016861560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
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"cds_length": 2337,
"cdna_start": null,
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"cdna_length": 10415,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1039+30488C>A",
"hgvs_p": null,
"transcript": "XM_017006073.2",
"protein_id": "XP_016861562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
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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": 20,
"intron_rank": 11,
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1039+30488C>A",
"hgvs_p": null,
"transcript": "XM_017006074.3",
"protein_id": "XP_016861563.1",
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"feature": null
},
{
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"consequences": [
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],
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"gene_symbol": "NAALADL2",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1039+30488C>A",
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},
{
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"strand": true,
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],
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"intron_rank": 10,
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1039+30488C>A",
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"transcript": "XM_017006077.3",
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},
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],
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1039+30488C>A",
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"transcript": "XM_017006078.3",
"protein_id": "XP_016861567.1",
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},
{
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],
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},
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],
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"gene_symbol": "NAALADL2",
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"protein_id": "XP_047303832.1",
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},
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1039+30488C>A",
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"transcript": "XM_047447877.1",
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],
"exon_rank": null,
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1039+30488C>A",
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.1090+30488C>A",
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"transcript": "XM_047447879.1",
"protein_id": "XP_047303835.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 5,
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.1069+30488C>A",
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"transcript": "XM_047447880.1",
"protein_id": "XP_047303836.1",
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}
],
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}