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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: 7-45064525-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45064525&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 45064525,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000258781.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "NM_031443.4",
"protein_id": "NP_113631.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 444,
"cds_start": 351,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "ENST00000258781.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "ENST00000258781.11",
"protein_id": "ENSP00000258781.7",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 444,
"cds_start": 351,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "NM_031443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "NM_001363458.2",
"protein_id": "NP_001350387.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 485,
"cds_start": 351,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Ala138Ala",
"transcript": "NM_001029835.2",
"protein_id": "NP_001025006.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 465,
"cds_start": 414,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Ala138Ala",
"transcript": "ENST00000381112.7",
"protein_id": "ENSP00000370503.3",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 465,
"cds_start": 414,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000475551.5",
"protein_id": "ENSP00000417180.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 438,
"cds_start": 333,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Ala59Ala",
"transcript": "NM_001363459.2",
"protein_id": "NP_001350388.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 427,
"cds_start": 177,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Ala59Ala",
"transcript": "NM_001167934.2",
"protein_id": "NP_001161406.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 386,
"cds_start": 177,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Ala59Ala",
"transcript": "ENST00000541586.5",
"protein_id": "ENSP00000444725.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 386,
"cds_start": 177,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "NM_001167935.2",
"protein_id": "NP_001161407.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 353,
"cds_start": 351,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "ENST00000544363.5",
"protein_id": "ENSP00000438035.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 353,
"cds_start": 351,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000474617.1",
"protein_id": "ENSP00000419474.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 347,
"cds_start": 333,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Ala138Ala",
"transcript": "XM_011515561.3",
"protein_id": "XP_011513863.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 506,
"cds_start": 414,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ala80Ala",
"transcript": "XM_011515563.4",
"protein_id": "XP_011513865.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 448,
"cds_start": 240,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ala80Ala",
"transcript": "XM_006715785.5",
"protein_id": "XP_006715848.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 407,
"cds_start": 240,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Ala138Ala",
"transcript": "XM_006715786.4",
"protein_id": "XP_006715849.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 374,
"cds_start": 414,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Ala138Ala",
"transcript": "XM_017012671.2",
"protein_id": "XP_016868160.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 318,
"cds_start": 414,
"cds_end": null,
"cds_length": 957,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ala117Ala",
"transcript": "XM_047420889.1",
"protein_id": "XP_047276845.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 297,
"cds_start": 351,
"cds_end": null,
"cds_length": 894,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Ala138Ala",
"transcript": "XM_047420890.1",
"protein_id": "XP_047276846.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 292,
"cds_start": 414,
"cds_end": null,
"cds_length": 879,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.240G>A",
"hgvs_p": "p.Ala80Ala",
"transcript": "XM_017012672.3",
"protein_id": "XP_016868161.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 260,
"cds_start": 240,
"cds_end": null,
"cds_length": 783,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.704G>A",
"hgvs_p": null,
"transcript": "ENST00000461377.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.418G>A",
"hgvs_p": null,
"transcript": "ENST00000472223.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.436G>A",
"hgvs_p": null,
"transcript": "ENST00000476594.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"phylop100way_prediction": "Benign",
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Cerebral cavernous malformation 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}