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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: 8-143920807-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143920807&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143920807,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345136.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9014G>A",
"hgvs_p": "p.Arg3005His",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 3005,
"aa_end": null,
"aa_length": 4547,
"cds_start": 9014,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 9150,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9014G>A",
"hgvs_p": "p.Arg3005His",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 3005,
"aa_end": null,
"aa_length": 4547,
"cds_start": 9014,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 9150,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8972G>A",
"hgvs_p": "p.Arg2991His",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 2991,
"aa_end": null,
"aa_length": 4533,
"cds_start": 8972,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 9029,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8972G>A",
"hgvs_p": "p.Arg2991His",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 2991,
"aa_end": null,
"aa_length": 4533,
"cds_start": 8972,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 9029,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9425G>A",
"hgvs_p": "p.Arg3142His",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 3142,
"aa_end": null,
"aa_length": 4684,
"cds_start": 9425,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 9595,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9095G>A",
"hgvs_p": "p.Arg3032His",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 3032,
"aa_end": null,
"aa_length": 4574,
"cds_start": 9095,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 9133,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9026G>A",
"hgvs_p": "p.Arg3009His",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 3009,
"aa_end": null,
"aa_length": 4551,
"cds_start": 9026,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 9035,
"cdna_end": null,
"cdna_length": 14689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9014G>A",
"hgvs_p": "p.Arg3005His",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 3005,
"aa_end": null,
"aa_length": 4547,
"cds_start": 9014,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 9082,
"cdna_end": null,
"cdna_length": 14736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8948G>A",
"hgvs_p": "p.Arg2983His",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 2983,
"aa_end": null,
"aa_length": 4525,
"cds_start": 8948,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 9097,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8918G>A",
"hgvs_p": "p.Arg2973His",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 2973,
"aa_end": null,
"aa_length": 4515,
"cds_start": 8918,
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"cds_length": 13548,
"cdna_start": 8992,
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"cdna_length": 14646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9425G>A",
"hgvs_p": "p.Arg3142His",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 3142,
"aa_end": null,
"aa_length": 4684,
"cds_start": 9425,
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"cds_length": 14055,
"cdna_start": 9645,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9146G>A",
"hgvs_p": "p.Arg3049His",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 3049,
"aa_end": null,
"aa_length": 4591,
"cds_start": 9146,
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"cds_length": 13776,
"cdna_start": 9152,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9095G>A",
"hgvs_p": "p.Arg3032His",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 3032,
"aa_end": null,
"aa_length": 4574,
"cds_start": 9095,
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"cdna_start": 9144,
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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": [
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],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9083G>A",
"hgvs_p": "p.Arg3028His",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9065G>A",
"hgvs_p": "p.Arg3022His",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 3022,
"aa_end": null,
"aa_length": 4564,
"cds_start": 9065,
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"cdna_start": 9107,
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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": [
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],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9026G>A",
"hgvs_p": "p.Arg3009His",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9014G>A",
"hgvs_p": "p.Arg3005His",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 3005,
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"aa_length": 4547,
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"cdna_start": 9109,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8948G>A",
"hgvs_p": "p.Arg2983His",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 2983,
"aa_end": null,
"aa_length": 4525,
"cds_start": 8948,
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"cdna_start": 9011,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 32,
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"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8945G>A",
"hgvs_p": "p.Arg2982His",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": 32,
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"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8918G>A",
"hgvs_p": "p.Arg2973His",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8732G>A",
"hgvs_p": "p.Arg2911His",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
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"cds_start": 8732,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5714G>A",
"hgvs_p": "p.Arg1905His",
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 3447,
"cds_start": 5714,
"cds_end": null,
"cds_length": 10344,
"cdna_start": 5763,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEC",
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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:4 O:1",
"phenotype_combined": "not specified|Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy|not provided|Epidermolysis bullosa simplex 5C, with pyloric atresia;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}