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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: 2-71611308-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71611308&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"hgvs_c": "c.4021C>G",
"hgvs_p": "p.Gln1341Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001130987.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 2430,
"alphamissense_prediction": null,
"alphamissense_score": 0.1196,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "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:4 LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01663026213645935,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "Q",
"aa_start": 1341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 4165,
"cds_end": null,
"cds_length": 6360,
"cds_start": 4021,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001130987.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4021C>G",
"hgvs_p": "p.Gln1341Glu",
"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": "E",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "Q",
"aa_start": 1341,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 4165,
"cds_end": null,
"cds_length": 6360,
"cds_start": 4021,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000410020.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4021C>G",
"hgvs_p": "p.Gln1341Glu",
"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": "E",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "Q",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 4405,
"cds_end": null,
"cds_length": 6243,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_003494.4",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Gln1323Glu",
"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": "E",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "Q",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 4405,
"cds_end": null,
"cds_length": 6243,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000258104.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Gln1323Glu",
"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": "E",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "Q",
"aa_start": 1340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6790,
"cdna_start": 4295,
"cds_end": null,
"cds_length": 6357,
"cds_start": 4018,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000409582.7",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4018C>G",
"hgvs_p": "p.Gln1340Glu",
"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": "E",
"aa_end": null,
"aa_length": 2112,
"aa_ref": "Q",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 4204,
"cds_end": null,
"cds_length": 6339,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000409651.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4063C>G",
"hgvs_p": "p.Gln1355Glu",
"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": "E",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "Q",
"aa_start": 1354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6769,
"cdna_start": 4337,
"cds_end": null,
"cds_length": 6336,
"cds_start": 4060,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000413539.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4060C>G",
"hgvs_p": "p.Gln1354Glu",
"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": "E",
"aa_end": null,
"aa_length": 2102,
"aa_ref": "Q",
"aa_start": 1324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 4111,
"cds_end": null,
"cds_length": 6309,
"cds_start": 3970,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000409366.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3970C>G",
"hgvs_p": "p.Gln1324Glu",
"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": "E",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "Q",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 4244,
"cds_end": null,
"cds_length": 6306,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000429174.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Gln1323Glu",
"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": "E",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "Q",
"aa_start": 1341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 4162,
"cds_end": null,
"cds_length": 6297,
"cds_start": 4021,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000410041.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4021C>G",
"hgvs_p": "p.Gln1341Glu",
"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": "E",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "Q",
"aa_start": 1340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6727,
"cdna_start": 4295,
"cds_end": null,
"cds_length": 6294,
"cds_start": 4018,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000409762.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4018C>G",
"hgvs_p": "p.Gln1340Glu",
"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": "E",
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"aa_length": 2088,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6564,
"cdna_start": 4069,
"cds_end": null,
"cds_length": 6267,
"cds_start": 3928,
"consequences": [
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],
"exon_count": 55,
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"feature": "ENST00000409744.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3928C>G",
"hgvs_p": "p.Gln1310Glu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386285.1",
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"transcript": "ENST00000409744.5",
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},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4111,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000394120.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3970C>G",
"hgvs_p": "p.Gln1324Glu",
"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
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7066,
"cdna_start": 4456,
"cds_end": null,
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"cds_start": 4018,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001130981.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4018C>G",
"hgvs_p": "p.Gln1340Glu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124453.1",
"strand": true,
"transcript": "NM_001130981.2",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 4135,
"cds_end": null,
"cds_length": 6345,
"cds_start": 4021,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000873665.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4021C>G",
"hgvs_p": "p.Gln1341Glu",
"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
},
{
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"aa_length": 2112,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6754,
"cdna_start": 4207,
"cds_end": null,
"cds_length": 6339,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001130982.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4063C>G",
"hgvs_p": "p.Gln1355Glu",
"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
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4498,
"cds_end": null,
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"cds_start": 4060,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 38,
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"feature": "NM_001130979.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4060C>G",
"hgvs_p": "p.Gln1354Glu",
"intron_rank": null,
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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",
"transcript_support_level": null
},
{
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"cdna_length": 6724,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 6309,
"cds_start": 3970,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001130983.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3970C>G",
"hgvs_p": "p.Gln1324Glu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124455.1",
"strand": true,
"transcript": "NM_001130983.2",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4405,
"cds_end": null,
"cds_length": 6306,
"cds_start": 3967,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001130978.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Gln1323Glu",
"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": "E",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "Q",
"aa_start": 1341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6712,
"cdna_start": 4165,
"cds_end": null,
"cds_length": 6297,
"cds_start": 4021,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001130985.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.4021C>G",
"hgvs_p": "p.Gln1341Glu",
"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": "E",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "Q",
"aa_start": 1340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7003,
"cdna_start": 4456,
"cds_end": null,
"cds_length": 6294,
"cds_start": 4018,
"consequences": [
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