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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: 7-45069828-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45069828&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "CCM2",
"hgnc_id": 21708,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_001363458.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 57,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Cerebral cavernous malformation 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003000000026077032,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1335,
"cds_start": 612,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_031443.4",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"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": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1335,
"cds_start": 612,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000258781.11",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000477605.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "n.947C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477605.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000481194.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "n.47C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481194.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1500,
"cds_start": 777,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938553.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Val259Val",
"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": "V",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1485,
"cds_start": 612,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956241.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"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": "V",
"aa_end": null,
"aa_length": 485,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1458,
"cds_start": 612,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363458.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"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": "V",
"aa_end": null,
"aa_length": 485,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1458,
"cds_start": 612,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860886.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"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": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1446,
"cds_start": 612,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956242.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Val204Val",
"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": "V",
"aa_end": null,
"aa_length": 466,
"aa_ref": "V",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1401,
"cds_start": 528,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956246.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.528C>T",
"hgvs_p": "p.Val176Val",
"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": "V",
"aa_end": null,
"aa_length": 465,
"aa_ref": "V",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1398,
"cds_start": 675,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001029835.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Val225Val",
"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": "V",
"aa_end": null,
"aa_length": 465,
"aa_ref": "V",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1398,
"cds_start": 675,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000381112.7",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Val225Val",
"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": "V",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1395,
"cds_start": 522,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956249.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Val174Val",
"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": "V",
"aa_end": null,
"aa_length": 457,
"aa_ref": "V",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1374,
"cds_start": 528,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860893.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.528C>T",
"hgvs_p": "p.Val176Val",
"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": "V",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1329,
"cds_start": 606,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860890.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Val202Val",
"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": "V",
"aa_end": null,
"aa_length": 441,
"aa_ref": "V",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1326,
"cds_start": 603,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956244.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Val201Val",
"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": "V",
"aa_end": null,
"aa_length": 438,
"aa_ref": "V",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1317,
"cds_start": 594,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000475551.5",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Val198Val",
"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": "V",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1284,
"cds_start": 438,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363459.2",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Val146Val",
"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": "V",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1284,
"cds_start": 438,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860888.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Val146Val",
"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": "V",
"aa_end": null,
"aa_length": 416,
"aa_ref": "V",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1251,
"cds_start": 528,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860887.1",
"gene_hgnc_id": 21708,
"gene_symbol": "CCM2",
"hgvs_c": "c.528C>T",
"hgvs_p": "p.Val176Val",
"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": "V",
"aa_end": null,
"aa_length": 414,
"aa_ref": "V",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 612,
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