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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: 7-45064558-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45064558&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CCM2",
"hgnc_id": 21708,
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001363458.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 3059,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Cerebral cavernous malformation 2,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.46000000834465027,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 444,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1335,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_031443.4",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258781.11",
"protein_coding": true,
"protein_id": "NP_113631.1",
"strand": true,
"transcript": "NM_031443.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 444,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1335,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000258781.11",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031443.4",
"protein_coding": true,
"protein_id": "ENSP00000258781.7",
"strand": true,
"transcript": "ENST00000258781.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 499,
"aa_ref": "E",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1500,
"cds_start": 549,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938553.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Glu183Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608612.1",
"strand": true,
"transcript": "ENST00000938553.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 494,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1485,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956241.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626300.1",
"strand": true,
"transcript": "ENST00000956241.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 485,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1458,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363458.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350387.1",
"strand": true,
"transcript": "NM_001363458.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 485,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1458,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860886.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530945.1",
"strand": true,
"transcript": "ENST00000860886.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 481,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 521,
"cds_end": null,
"cds_length": 1446,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956242.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.384G>A",
"hgvs_p": "p.Glu128Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626301.1",
"strand": true,
"transcript": "ENST00000956242.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 466,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 392,
"cds_end": null,
"cds_length": 1401,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956246.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.300G>A",
"hgvs_p": "p.Glu100Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626305.1",
"strand": true,
"transcript": "ENST00000956246.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 465,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1398,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001029835.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Glu149Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025006.1",
"strand": true,
"transcript": "NM_001029835.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 465,
"aa_ref": "E",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1398,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000381112.7",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Glu149Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370503.3",
"strand": true,
"transcript": "ENST00000381112.7",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 464,
"aa_ref": "E",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 381,
"cds_end": null,
"cds_length": 1395,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956249.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.294G>A",
"hgvs_p": "p.Glu98Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626308.1",
"strand": true,
"transcript": "ENST00000956249.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 393,
"cds_end": null,
"cds_length": 1374,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860893.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.300G>A",
"hgvs_p": "p.Glu100Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530952.1",
"strand": true,
"transcript": "ENST00000860893.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 442,
"aa_ref": "E",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1329,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860890.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Glu126Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530949.1",
"strand": true,
"transcript": "ENST00000860890.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 441,
"aa_ref": "E",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 472,
"cds_end": null,
"cds_length": 1326,
"cds_start": 375,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956244.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Glu125Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626303.1",
"strand": true,
"transcript": "ENST00000956244.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 438,
"aa_ref": "E",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1317,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000475551.5",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.366G>A",
"hgvs_p": "p.Glu122Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417180.1",
"strand": true,
"transcript": "ENST00000475551.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 427,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1284,
"cds_start": 210,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363459.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.210G>A",
"hgvs_p": "p.Glu70Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350388.1",
"strand": true,
"transcript": "NM_001363459.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 427,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 311,
"cds_end": null,
"cds_length": 1284,
"cds_start": 210,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860888.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.210G>A",
"hgvs_p": "p.Glu70Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530947.1",
"strand": true,
"transcript": "ENST00000860888.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 416,
"aa_ref": "E",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 401,
"cds_end": null,
"cds_length": 1251,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860887.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.300G>A",
"hgvs_p": "p.Glu100Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530946.1",
"strand": true,
"transcript": "ENST00000860887.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 414,
"aa_ref": "E",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 384,
"cds_end": null,
"cds_length": 1245,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860891.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.294G>A",
"hgvs_p": "p.Glu98Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530950.1",
"strand": true,
"transcript": "ENST00000860891.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 386,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1161,
"cds_start": 210,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001167934.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.210G>A",
"hgvs_p": "p.Glu70Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161406.1",
"strand": true,
"transcript": "NM_001167934.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 386,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1161,
"cds_start": 210,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000541586.5",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.210G>A",
"hgvs_p": "p.Glu70Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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