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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: 14-71040884-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=71040884&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 71040884,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000304743.7",
"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": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3868-4249G>C",
"hgvs_p": null,
"transcript": "NM_014982.3",
"protein_id": "NP_055797.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2341,
"cds_start": -4,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12865,
"mane_select": "ENST00000304743.7",
"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": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3868-4249G>C",
"hgvs_p": null,
"transcript": "ENST00000304743.7",
"protein_id": "ENSP00000304192.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2341,
"cds_start": -4,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12865,
"mane_select": "NM_014982.3",
"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": 34,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3535-4249G>C",
"hgvs_p": null,
"transcript": "ENST00000439984.7",
"protein_id": "ENSP00000396617.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2230,
"cds_start": -4,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6988,
"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": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.1042-4249G>C",
"hgvs_p": null,
"transcript": "ENST00000554691.5",
"protein_id": "ENSP00000451016.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4204,
"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": 34,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3535-4249G>C",
"hgvs_p": null,
"transcript": "NM_001308160.2",
"protein_id": "NP_001295089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2230,
"cds_start": -4,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12532,
"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": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3868-4249G>C",
"hgvs_p": null,
"transcript": "XM_005267420.5",
"protein_id": "XP_005267477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2349,
"cds_start": -4,
"cds_end": null,
"cds_length": 7050,
"cdna_start": null,
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"cdna_length": 12889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3865-4249G>C",
"hgvs_p": null,
"transcript": "XM_005267421.5",
"protein_id": "XP_005267478.1",
"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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"cdna_length": 12886,
"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": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3853-4249G>C",
"hgvs_p": null,
"transcript": "XM_005267422.5",
"protein_id": "XP_005267479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2344,
"cds_start": -4,
"cds_end": null,
"cds_length": 7035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12874,
"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": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3865-4249G>C",
"hgvs_p": null,
"transcript": "XM_047431121.1",
"protein_id": "XP_047287077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2340,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "PCNX1",
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"hgvs_c": "c.3853-4249G>C",
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"transcript": "XM_005267423.5",
"protein_id": "XP_005267480.1",
"transcript_support_level": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PCNX1",
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"hgvs_c": "c.3850-4249G>C",
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"transcript": "XM_047431122.1",
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},
{
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],
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{
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],
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"gene_symbol": "PCNX1",
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],
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],
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"gene_symbol": "PCNX1",
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},
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],
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"gene_symbol": "PCNX1",
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}