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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: 14-71019061-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=71019061&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 71019061,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014982.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3049G>A",
"hgvs_p": "p.Ala1017Thr",
"transcript": "NM_014982.3",
"protein_id": "NP_055797.2",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 2341,
"cds_start": 3049,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304743.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014982.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3049G>A",
"hgvs_p": "p.Ala1017Thr",
"transcript": "ENST00000304743.7",
"protein_id": "ENSP00000304192.2",
"transcript_support_level": 1,
"aa_start": 1017,
"aa_end": null,
"aa_length": 2341,
"cds_start": 3049,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014982.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304743.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Ala906Thr",
"transcript": "ENST00000439984.7",
"protein_id": "ENSP00000396617.3",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 2230,
"cds_start": 2716,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439984.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Ala75Thr",
"transcript": "ENST00000554691.5",
"protein_id": "ENSP00000451016.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 1327,
"cds_start": 223,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554691.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Ala906Thr",
"transcript": "NM_001308160.2",
"protein_id": "NP_001295089.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 2230,
"cds_start": 2716,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308160.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3049G>A",
"hgvs_p": "p.Ala1017Thr",
"transcript": "XM_005267420.5",
"protein_id": "XP_005267477.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 2349,
"cds_start": 3049,
"cds_end": null,
"cds_length": 7050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267420.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3046G>A",
"hgvs_p": "p.Ala1016Thr",
"transcript": "XM_005267421.5",
"protein_id": "XP_005267478.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 2348,
"cds_start": 3046,
"cds_end": null,
"cds_length": 7047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267421.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3034G>A",
"hgvs_p": "p.Ala1012Thr",
"transcript": "XM_005267422.5",
"protein_id": "XP_005267479.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 2344,
"cds_start": 3034,
"cds_end": null,
"cds_length": 7035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267422.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3046G>A",
"hgvs_p": "p.Ala1016Thr",
"transcript": "XM_047431121.1",
"protein_id": "XP_047287077.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 2340,
"cds_start": 3046,
"cds_end": null,
"cds_length": 7023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431121.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3034G>A",
"hgvs_p": "p.Ala1012Thr",
"transcript": "XM_005267423.5",
"protein_id": "XP_005267480.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 2336,
"cds_start": 3034,
"cds_end": null,
"cds_length": 7011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267423.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3031G>A",
"hgvs_p": "p.Ala1011Thr",
"transcript": "XM_047431122.1",
"protein_id": "XP_047287078.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 2335,
"cds_start": 3031,
"cds_end": null,
"cds_length": 7008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431122.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "XM_005267424.4",
"protein_id": "XP_005267481.2",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 2312,
"cds_start": 2938,
"cds_end": null,
"cds_length": 6939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267424.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "XM_047431123.1",
"protein_id": "XP_047287079.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 2304,
"cds_start": 2938,
"cds_end": null,
"cds_length": 6915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431123.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Ala911Thr",
"transcript": "XM_005267425.5",
"protein_id": "XP_005267482.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 2243,
"cds_start": 2731,
"cds_end": null,
"cds_length": 6732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267425.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Ala906Thr",
"transcript": "XM_047431124.1",
"protein_id": "XP_047287080.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 2238,
"cds_start": 2716,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431124.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Ala911Thr",
"transcript": "XM_017021096.2",
"protein_id": "XP_016876585.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 2235,
"cds_start": 2731,
"cds_end": null,
"cds_length": 6708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021096.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Ala874Thr",
"transcript": "XM_047431125.1",
"protein_id": "XP_047287081.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 2206,
"cds_start": 2620,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431125.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2620G>A",
"hgvs_p": "p.Ala874Thr",
"transcript": "XM_047431126.1",
"protein_id": "XP_047287082.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 2198,
"cds_start": 2620,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431126.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "XM_047431127.1",
"protein_id": "XP_047287083.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1982,
"cds_start": 1948,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431127.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Ala544Thr",
"transcript": "XM_047431128.1",
"protein_id": "XP_047287084.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 1876,
"cds_start": 1630,
"cds_end": null,
"cds_length": 5631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431128.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Ala544Thr",
"transcript": "XM_047431129.1",
"protein_id": "XP_047287085.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 1868,
"cds_start": 1630,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431129.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3049G>A",
"hgvs_p": "p.Ala1017Thr",
"transcript": "XM_005267427.5",
"protein_id": "XP_005267484.1",
"transcript_support_level": null,
"aa_start": 1017,
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{
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"verdict": "Uncertain_significance",
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}
],
"message": null
}