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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: 10-29458448-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=29458448&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SVIL",
"hgnc_id": 11480,
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021738.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SVIL-AS1",
"hgnc_id": null,
"hgvs_c": "n.488C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000430295.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 102,
"alphamissense_prediction": null,
"alphamissense_score": 0.1276,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48509466648101807,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "D",
"aa_start": 2182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": 7296,
"cds_end": null,
"cds_length": 6645,
"cds_start": 6544,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_021738.3",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355867.9",
"protein_coding": true,
"protein_id": "NP_068506.2",
"strand": false,
"transcript": "NM_021738.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "D",
"aa_start": 2182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": 7296,
"cds_end": null,
"cds_length": 6645,
"cds_start": 6544,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000355867.9",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021738.3",
"protein_coding": true,
"protein_id": "ENSP00000348128.4",
"strand": false,
"transcript": "ENST00000355867.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1788,
"aa_ref": "D",
"aa_start": 1756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6729,
"cdna_start": 5719,
"cds_end": null,
"cds_length": 5367,
"cds_start": 5266,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000375400.7",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5266G>A",
"hgvs_p": "p.Asp1756Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364549.3",
"strand": false,
"transcript": "ENST00000375400.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413405.7",
"gene_hgnc_id": null,
"gene_symbol": "SVIL-AS1",
"hgvs_c": "n.212-28707C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000413405.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3082,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414457.7",
"gene_hgnc_id": null,
"gene_symbol": "SVIL-AS1",
"hgvs_c": "n.213-24385C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000414457.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2256,
"aa_ref": "D",
"aa_start": 2224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": 7458,
"cds_end": null,
"cds_length": 6771,
"cds_start": 6670,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000860295.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6670G>A",
"hgvs_p": "p.Asp2224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530354.1",
"strand": false,
"transcript": "ENST00000860295.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2256,
"aa_ref": "D",
"aa_start": 2224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": 7427,
"cds_end": null,
"cds_length": 6771,
"cds_start": 6670,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000946673.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6670G>A",
"hgvs_p": "p.Asp2224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616732.1",
"strand": false,
"transcript": "ENST00000946673.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "D",
"aa_start": 2182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8200,
"cdna_start": 7197,
"cds_end": null,
"cds_length": 6645,
"cds_start": 6544,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000860289.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530348.1",
"strand": false,
"transcript": "ENST00000860289.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2199,
"aa_ref": "D",
"aa_start": 2167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8151,
"cdna_start": 7152,
"cds_end": null,
"cds_length": 6600,
"cds_start": 6499,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000946674.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6499G>A",
"hgvs_p": "p.Asp2167Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616733.1",
"strand": false,
"transcript": "ENST00000946674.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2199,
"aa_ref": "D",
"aa_start": 2167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8268,
"cdna_start": 7252,
"cds_end": null,
"cds_length": 6600,
"cds_start": 6499,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000946678.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6499G>A",
"hgvs_p": "p.Asp2167Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616737.1",
"strand": false,
"transcript": "ENST00000946678.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2182,
"aa_ref": "D",
"aa_start": 2150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8201,
"cdna_start": 7201,
"cds_end": null,
"cds_length": 6549,
"cds_start": 6448,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000375398.6",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6448G>A",
"hgvs_p": "p.Asp2150Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364547.3",
"strand": false,
"transcript": "ENST00000375398.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2182,
"aa_ref": "D",
"aa_start": 2150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8211,
"cdna_start": 7208,
"cds_end": null,
"cds_length": 6549,
"cds_start": 6448,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000946672.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6448G>A",
"hgvs_p": "p.Asp2150Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616731.1",
"strand": false,
"transcript": "ENST00000946672.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2157,
"aa_ref": "D",
"aa_start": 2125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 7125,
"cds_end": null,
"cds_length": 6474,
"cds_start": 6373,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000860298.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6373G>A",
"hgvs_p": "p.Asp2125Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530357.1",
"strand": false,
"transcript": "ENST00000860298.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2155,
"aa_ref": "D",
"aa_start": 2123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8207,
"cdna_start": 7205,
"cds_end": null,
"cds_length": 6468,
"cds_start": 6367,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000946670.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6367G>A",
"hgvs_p": "p.Asp2123Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616729.1",
"strand": false,
"transcript": "ENST00000946670.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2139,
"aa_ref": "D",
"aa_start": 2107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7982,
"cdna_start": 6972,
"cds_end": null,
"cds_length": 6420,
"cds_start": 6319,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000860288.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6319G>A",
"hgvs_p": "p.Asp2107Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530347.1",
"strand": false,
"transcript": "ENST00000860288.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2125,
"aa_ref": "D",
"aa_start": 2093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7858,
"cdna_start": 6930,
"cds_end": null,
"cds_length": 6378,
"cds_start": 6277,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000860291.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Asp2093Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530350.1",
"strand": false,
"transcript": "ENST00000860291.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1904,
"aa_ref": "D",
"aa_start": 1872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7275,
"cdna_start": 6265,
"cds_end": null,
"cds_length": 5715,
"cds_start": 5614,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001323599.2",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5614G>A",
"hgvs_p": "p.Asp1872Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310528.1",
"strand": false,
"transcript": "NM_001323599.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1904,
"aa_ref": "D",
"aa_start": 1872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7275,
"cdna_start": 6288,
"cds_end": null,
"cds_length": 5715,
"cds_start": 5614,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000674475.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5614G>A",
"hgvs_p": "p.Asp1872Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501521.1",
"strand": false,
"transcript": "ENST00000674475.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1889,
"aa_ref": "D",
"aa_start": 1857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7280,
"cdna_start": 6280,
"cds_end": null,
"cds_length": 5670,
"cds_start": 5569,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000946679.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5569G>A",
"hgvs_p": "p.Asp1857Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616738.1",
"strand": false,
"transcript": "ENST00000946679.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1887,
"aa_ref": "D",
"aa_start": 1855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7047,
"cdna_start": 6045,
"cds_end": null,
"cds_length": 5664,
"cds_start": 5563,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000946680.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5563G>A",
"hgvs_p": "p.Asp1855Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616739.1",
"strand": false,
"transcript": "ENST00000946680.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1872,
"aa_ref": "D",
"aa_start": 1840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 6270,
"cds_end": null,
"cds_length": 5619,
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