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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: 2-71682536-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71682536&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PP3",
"BP6",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"hgvs_c": "c.6180C>T",
"hgvs_p": "p.Pro2060Pro",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -8,
"transcript": "NM_001130987.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6,BS1,BS2",
"acmg_score": -8,
"allele_count_reference_population": 685,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2B,Miyoshi muscular dystrophy 1,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.2800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "P",
"aa_start": 2060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 6324,
"cds_end": null,
"cds_length": 6360,
"cds_start": 6180,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001130987.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6180C>T",
"hgvs_p": "p.Pro2060Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000410020.8",
"protein_coding": true,
"protein_id": "NP_001124459.1",
"strand": true,
"transcript": "NM_001130987.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "P",
"aa_start": 2060,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 6324,
"cds_end": null,
"cds_length": 6360,
"cds_start": 6180,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000410020.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6180C>T",
"hgvs_p": "p.Pro2060Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130987.2",
"protein_coding": true,
"protein_id": "ENSP00000386881.3",
"strand": true,
"transcript": "ENST00000410020.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "P",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 6501,
"cds_end": null,
"cds_length": 6243,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 55,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_003494.4",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6063C>T",
"hgvs_p": "p.Pro2021Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000258104.8",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003485.1",
"strand": true,
"transcript": "NM_003494.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "P",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 6501,
"cds_end": null,
"cds_length": 6243,
"cds_start": 6063,
"consequences": [
"synonymous_variant"
],
"exon_count": 55,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000258104.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6063C>T",
"hgvs_p": "p.Pro2021Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_003494.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258104.3",
"strand": true,
"transcript": "ENST00000258104.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "P",
"aa_start": 2059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6790,
"cdna_start": 6454,
"cds_end": null,
"cds_length": 6357,
"cds_start": 6177,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000409582.7",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6177C>T",
"hgvs_p": "p.Pro2059Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386547.3",
"strand": true,
"transcript": "ENST00000409582.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2112,
"aa_ref": "P",
"aa_start": 2053,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 6300,
"cds_end": null,
"cds_length": 6339,
"cds_start": 6159,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000409651.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6159C>T",
"hgvs_p": "p.Pro2053Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386683.1",
"strand": true,
"transcript": "ENST00000409651.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "P",
"aa_start": 2052,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6769,
"cdna_start": 6433,
"cds_end": null,
"cds_length": 6336,
"cds_start": 6156,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000413539.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6156C>T",
"hgvs_p": "p.Pro2052Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407046.2",
"strand": true,
"transcript": "ENST00000413539.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2102,
"aa_ref": "P",
"aa_start": 2043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 6270,
"cds_end": null,
"cds_length": 6309,
"cds_start": 6129,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000409366.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6129C>T",
"hgvs_p": "p.Pro2043Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386512.1",
"strand": true,
"transcript": "ENST00000409366.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "P",
"aa_start": 2042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 6403,
"cds_end": null,
"cds_length": 6306,
"cds_start": 6126,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000429174.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6126C>T",
"hgvs_p": "p.Pro2042Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398305.2",
"strand": true,
"transcript": "ENST00000429174.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "P",
"aa_start": 2039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 6258,
"cds_end": null,
"cds_length": 6297,
"cds_start": 6117,
"consequences": [
"synonymous_variant"
],
"exon_count": 55,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000410041.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6117C>T",
"hgvs_p": "p.Pro2039Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386617.1",
"strand": true,
"transcript": "ENST00000410041.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "P",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6727,
"cdna_start": 6391,
"cds_end": null,
"cds_length": 6294,
"cds_start": 6114,
"consequences": [
"synonymous_variant"
],
"exon_count": 55,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000409762.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6114C>T",
"hgvs_p": "p.Pro2038Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387137.1",
"strand": true,
"transcript": "ENST00000409762.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
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"aa_length": 2088,
"aa_ref": "P",
"aa_start": 2029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6564,
"cdna_start": 6228,
"cds_end": null,
"cds_length": 6267,
"cds_start": 6087,
"consequences": [
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],
"exon_count": 55,
"exon_rank": 54,
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"feature": "ENST00000409744.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6087C>T",
"hgvs_p": "p.Pro2029Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386285.1",
"strand": true,
"transcript": "ENST00000409744.5",
"transcript_support_level": 1
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 6207,
"cds_end": null,
"cds_length": 6246,
"cds_start": 6066,
"consequences": [
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],
"exon_count": 55,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000394120.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6066C>T",
"hgvs_p": "p.Pro2022Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377678.2",
"strand": true,
"transcript": "ENST00000394120.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
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"aa_ref": "P",
"aa_start": 2059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7066,
"cdna_start": 6615,
"cds_end": null,
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"cds_start": 6177,
"consequences": [
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],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001130981.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6177C>T",
"hgvs_p": "p.Pro2059Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001124453.1",
"strand": true,
"transcript": "NM_001130981.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 6279,
"cds_end": null,
"cds_length": 6345,
"cds_start": 6165,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000873665.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6165C>T",
"hgvs_p": "p.Pro2055Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543724.1",
"strand": true,
"transcript": "ENST00000873665.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6754,
"cdna_start": 6303,
"cds_end": null,
"cds_length": 6339,
"cds_start": 6159,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001130982.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6159C>T",
"hgvs_p": "p.Pro2053Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124454.1",
"strand": true,
"transcript": "NM_001130982.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 6594,
"cds_end": null,
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"consequences": [
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],
"exon_count": 56,
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"exon_rank_end": null,
"feature": "NM_001130979.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6156C>T",
"hgvs_p": "p.Pro2052Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001124451.1",
"strand": true,
"transcript": "NM_001130979.2",
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},
{
"aa_alt": "P",
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"cdna_start": 6273,
"cds_end": null,
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"cds_start": 6129,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001130983.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6129C>T",
"hgvs_p": "p.Pro2043Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001124455.1",
"strand": true,
"transcript": "NM_001130983.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 6564,
"cds_end": null,
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"cds_start": 6126,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001130978.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6126C>T",
"hgvs_p": "p.Pro2042Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124450.1",
"strand": true,
"transcript": "NM_001130978.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 2098,
"aa_ref": "P",
"aa_start": 2039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6712,
"cdna_start": 6261,
"cds_end": null,
"cds_length": 6297,
"cds_start": 6117,
"consequences": [
"synonymous_variant"
],
"exon_count": 55,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_001130985.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.6117C>T",
"hgvs_p": "p.Pro2039Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124457.1",
"strand": true,
"transcript": "NM_001130985.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "P",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7003,
"cdna_start": 6552,
"cds_end": null,
"cds_length": 6294,
"cds_start": 6114,
"consequences": [
"synonymous_variant"
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