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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: 8-143924680-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143924680&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143924680,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345136.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5249G>A",
"hgvs_p": "p.Arg1750Gln",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5249,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5385,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5249G>A",
"hgvs_p": "p.Arg1750Gln",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 1750,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5249,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5385,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5207G>A",
"hgvs_p": "p.Arg1736Gln",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 4533,
"cds_start": 5207,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 5264,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5207G>A",
"hgvs_p": "p.Arg1736Gln",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 1736,
"aa_end": null,
"aa_length": 4533,
"cds_start": 5207,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 5264,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5660G>A",
"hgvs_p": "p.Arg1887Gln",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 1887,
"aa_end": null,
"aa_length": 4684,
"cds_start": 5660,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 5830,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5330G>A",
"hgvs_p": "p.Arg1777Gln",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 1777,
"aa_end": null,
"aa_length": 4574,
"cds_start": 5330,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5261G>A",
"hgvs_p": "p.Arg1754Gln",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 1754,
"aa_end": null,
"aa_length": 4551,
"cds_start": 5261,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 5270,
"cdna_end": null,
"cdna_length": 14689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5249G>A",
"hgvs_p": "p.Arg1750Gln",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 1750,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5249,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5317,
"cdna_end": null,
"cdna_length": 14736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5183G>A",
"hgvs_p": "p.Arg1728Gln",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 1728,
"aa_end": null,
"aa_length": 4525,
"cds_start": 5183,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 5332,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5153G>A",
"hgvs_p": "p.Arg1718Gln",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 1718,
"aa_end": null,
"aa_length": 4515,
"cds_start": 5153,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 5227,
"cdna_end": null,
"cdna_length": 14646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5660G>A",
"hgvs_p": "p.Arg1887Gln",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 1887,
"aa_end": null,
"aa_length": 4684,
"cds_start": 5660,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 5880,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5381G>A",
"hgvs_p": "p.Arg1794Gln",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 1794,
"aa_end": null,
"aa_length": 4591,
"cds_start": 5381,
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"cds_length": 13776,
"cdna_start": 5387,
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"cdna_length": 13782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5330G>A",
"hgvs_p": "p.Arg1777Gln",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 1777,
"aa_end": null,
"aa_length": 4574,
"cds_start": 5330,
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"cdna_start": 5379,
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"cdna_length": 14798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5318G>A",
"hgvs_p": "p.Arg1773Gln",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
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"cdna_start": 5318,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5300G>A",
"hgvs_p": "p.Arg1767Gln",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 4564,
"cds_start": 5300,
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"cdna_start": 5342,
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"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5261G>A",
"hgvs_p": "p.Arg1754Gln",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5249G>A",
"hgvs_p": "p.Arg1750Gln",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5249,
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"cdna_start": 5344,
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"cdna_length": 14763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5183G>A",
"hgvs_p": "p.Arg1728Gln",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 1728,
"aa_end": null,
"aa_length": 4525,
"cds_start": 5183,
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"cdna_start": 5246,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5180G>A",
"hgvs_p": "p.Arg1727Gln",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5153G>A",
"hgvs_p": "p.Arg1718Gln",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4967G>A",
"hgvs_p": "p.Arg1656Gln",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 4453,
"cds_start": 4967,
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"cds_length": 13362,
"cdna_start": 5300,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5675G>A",
"hgvs_p": "p.Arg1892Gln",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 1892,
"aa_end": null,
"aa_length": 4689,
"cds_start": 5675,
"cds_end": null,
"cds_length": 14070,
"cdna_start": 5895,
"cdna_end": null,
"cdna_length": 15314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
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"message": null
}