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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: 2-71668799-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71668799&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"hgvs_c": "c.5503C>G",
"hgvs_p": "p.Arg1835Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001130987.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1154,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13849300146102905,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "R",
"aa_start": 1835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 5647,
"cds_end": null,
"cds_length": 6360,
"cds_start": 5503,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001130987.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5503C>G",
"hgvs_p": "p.Arg1835Gly",
"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": "G",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "R",
"aa_start": 1835,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 5647,
"cds_end": null,
"cds_length": 6360,
"cds_start": 5503,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000410020.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5503C>G",
"hgvs_p": "p.Arg1835Gly",
"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": "G",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "R",
"aa_start": 1796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 5824,
"cds_end": null,
"cds_length": 6243,
"cds_start": 5386,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_003494.4",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5386C>G",
"hgvs_p": "p.Arg1796Gly",
"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": "G",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "R",
"aa_start": 1796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 5824,
"cds_end": null,
"cds_length": 6243,
"cds_start": 5386,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000258104.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5386C>G",
"hgvs_p": "p.Arg1796Gly",
"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": "G",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "R",
"aa_start": 1834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6790,
"cdna_start": 5777,
"cds_end": null,
"cds_length": 6357,
"cds_start": 5500,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000409582.7",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5500C>G",
"hgvs_p": "p.Arg1834Gly",
"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": "G",
"aa_end": null,
"aa_length": 2112,
"aa_ref": "R",
"aa_start": 1828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 5623,
"cds_end": null,
"cds_length": 6339,
"cds_start": 5482,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000409651.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5482C>G",
"hgvs_p": "p.Arg1828Gly",
"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": "G",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "R",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6769,
"cdna_start": 5756,
"cds_end": null,
"cds_length": 6336,
"cds_start": 5479,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000413539.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5479C>G",
"hgvs_p": "p.Arg1827Gly",
"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": "G",
"aa_end": null,
"aa_length": 2102,
"aa_ref": "R",
"aa_start": 1818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 5593,
"cds_end": null,
"cds_length": 6309,
"cds_start": 5452,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000409366.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5452C>G",
"hgvs_p": "p.Arg1818Gly",
"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": "G",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "R",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 5726,
"cds_end": null,
"cds_length": 6306,
"cds_start": 5449,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000429174.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5449C>G",
"hgvs_p": "p.Arg1817Gly",
"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": "G",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "R",
"aa_start": 1814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 5581,
"cds_end": null,
"cds_length": 6297,
"cds_start": 5440,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000410041.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5440C>G",
"hgvs_p": "p.Arg1814Gly",
"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": "G",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "R",
"aa_start": 1813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6727,
"cdna_start": 5714,
"cds_end": null,
"cds_length": 6294,
"cds_start": 5437,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000409762.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5437C>G",
"hgvs_p": "p.Arg1813Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387137.1",
"strand": true,
"transcript": "ENST00000409762.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2088,
"aa_ref": "R",
"aa_start": 1804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6564,
"cdna_start": 5551,
"cds_end": null,
"cds_length": 6267,
"cds_start": 5410,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000409744.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5410C>G",
"hgvs_p": "p.Arg1804Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386285.1",
"strand": true,
"transcript": "ENST00000409744.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2081,
"aa_ref": "R",
"aa_start": 1797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6543,
"cdna_start": 5530,
"cds_end": null,
"cds_length": 6246,
"cds_start": 5389,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000394120.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5389C>G",
"hgvs_p": "p.Arg1797Gly",
"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": "G",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "R",
"aa_start": 1834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7066,
"cdna_start": 5938,
"cds_end": null,
"cds_length": 6357,
"cds_start": 5500,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001130981.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5500C>G",
"hgvs_p": "p.Arg1834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124453.1",
"strand": true,
"transcript": "NM_001130981.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2114,
"aa_ref": "R",
"aa_start": 1830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 5602,
"cds_end": null,
"cds_length": 6345,
"cds_start": 5488,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000873665.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5488C>G",
"hgvs_p": "p.Arg1830Gly",
"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": "G",
"aa_end": null,
"aa_length": 2112,
"aa_ref": "R",
"aa_start": 1828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6754,
"cdna_start": 5626,
"cds_end": null,
"cds_length": 6339,
"cds_start": 5482,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001130982.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5482C>G",
"hgvs_p": "p.Arg1828Gly",
"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": "G",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "R",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7045,
"cdna_start": 5917,
"cds_end": null,
"cds_length": 6336,
"cds_start": 5479,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001130979.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5479C>G",
"hgvs_p": "p.Arg1827Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124451.1",
"strand": true,
"transcript": "NM_001130979.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2102,
"aa_ref": "R",
"aa_start": 1818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6724,
"cdna_start": 5596,
"cds_end": null,
"cds_length": 6309,
"cds_start": 5452,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001130983.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5452C>G",
"hgvs_p": "p.Arg1818Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124455.1",
"strand": true,
"transcript": "NM_001130983.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "R",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7015,
"cdna_start": 5887,
"cds_end": null,
"cds_length": 6306,
"cds_start": 5449,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001130978.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5449C>G",
"hgvs_p": "p.Arg1817Gly",
"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": "G",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "R",
"aa_start": 1814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6712,
"cdna_start": 5584,
"cds_end": null,
"cds_length": 6297,
"cds_start": 5440,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001130985.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5440C>G",
"hgvs_p": "p.Arg1814Gly",
"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": "G",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "R",
"aa_start": 1813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7003,
"cdna_start": 5875,
"cds_end": null,
"cds_length": 6294,
"cds_start": 5437,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001130980.2",
"gene_hgnc_id": 3097,
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