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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: 2-71611481-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71611481&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71611481,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4076T>C",
"hgvs_p": "p.Leu1359Pro",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 2119,
"cds_start": 4076,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 4220,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4076T>C",
"hgvs_p": "p.Leu1359Pro",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 1359,
"aa_end": null,
"aa_length": 2119,
"cds_start": 4076,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 4220,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4022T>C",
"hgvs_p": "p.Leu1341Pro",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 2080,
"cds_start": 4022,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4022T>C",
"hgvs_p": "p.Leu1341Pro",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 1341,
"aa_end": null,
"aa_length": 2080,
"cds_start": 4022,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4073T>C",
"hgvs_p": "p.Leu1358Pro",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 2118,
"cds_start": 4073,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 4350,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4118T>C",
"hgvs_p": "p.Leu1373Pro",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 1373,
"aa_end": null,
"aa_length": 2112,
"cds_start": 4118,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 4259,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4115T>C",
"hgvs_p": "p.Leu1372Pro",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 1372,
"aa_end": null,
"aa_length": 2111,
"cds_start": 4115,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 4392,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4025T>C",
"hgvs_p": "p.Leu1342Pro",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 1342,
"aa_end": null,
"aa_length": 2102,
"cds_start": 4025,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 4166,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4022T>C",
"hgvs_p": "p.Leu1341Pro",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 1341,
"aa_end": null,
"aa_length": 2101,
"cds_start": 4022,
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"cds_length": 6306,
"cdna_start": 4299,
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"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4076T>C",
"hgvs_p": "p.Leu1359Pro",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 1359,
"aa_end": null,
"aa_length": 2098,
"cds_start": 4076,
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"cds_length": 6297,
"cdna_start": 4217,
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"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4073T>C",
"hgvs_p": "p.Leu1358Pro",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 1358,
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"aa_length": 2097,
"cds_start": 4073,
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"cdna_start": 4350,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 37,
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"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3983T>C",
"hgvs_p": "p.Leu1328Pro",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 1328,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 38,
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"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_c": "c.4025T>C",
"hgvs_p": "p.Leu1342Pro",
"transcript": "ENST00000394120.6",
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},
{
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"strand": true,
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],
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"gene_symbol": "DYSF",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
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"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4118T>C",
"hgvs_p": "p.Leu1373Pro",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
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"aa_start": 1373,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
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"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_c": "c.4115T>C",
"hgvs_p": "p.Leu1372Pro",
"transcript": "NM_001130979.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4025T>C",
"hgvs_p": "p.Leu1342Pro",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4022T>C",
"hgvs_p": "p.Leu1341Pro",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "DYSF",
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"hgvs_c": "c.4076T>C",
"hgvs_p": "p.Leu1359Pro",
"transcript": "NM_001130985.2",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_c": "c.4073T>C",
"hgvs_p": "p.Leu1358Pro",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
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},
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],
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"gene_symbol": "DYSF",
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"hgvs_c": "c.3983T>C",
"hgvs_p": "p.Leu1328Pro",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
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"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3980T>C",
"hgvs_p": "p.Leu1327Pro",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
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"aa_start": 1327,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"bayesdelnoaf_score": 0.38,
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"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
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"PS3",
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"verdict": "Pathogenic",
"transcript": "ENST00000410020.8",
"gene_symbol": "DYSF",
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"inheritance_mode": "AR",
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"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2B,Distal myopathy with anterior tibial onset,Miyoshi muscular dystrophy 1,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:9",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2B|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|not provided|Miyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy|Distal myopathy with anterior tibial onset;Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}