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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: 7-45075982-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45075982&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 45075982,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001363458.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Glu420Glu",
"transcript": "NM_031443.4",
"protein_id": "NP_113631.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 444,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "ENST00000258781.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031443.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Glu420Glu",
"transcript": "ENST00000258781.11",
"protein_id": "ENSP00000258781.7",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 444,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "NM_031443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258781.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.1595G>A",
"hgvs_p": null,
"transcript": "ENST00000477605.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "n.4833G>A",
"hgvs_p": null,
"transcript": "ENST00000481194.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481194.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1425G>A",
"hgvs_p": "p.Glu475Glu",
"transcript": "ENST00000938553.1",
"protein_id": "ENSP00000608612.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 499,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938553.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1410G>A",
"hgvs_p": "p.Glu470Glu",
"transcript": "ENST00000956241.1",
"protein_id": "ENSP00000626300.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 494,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956241.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Glu461Glu",
"transcript": "NM_001363458.2",
"protein_id": "NP_001350387.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 485,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363458.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Glu461Glu",
"transcript": "ENST00000860886.1",
"protein_id": "ENSP00000530945.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 485,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860886.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1371G>A",
"hgvs_p": "p.Glu457Glu",
"transcript": "ENST00000956242.1",
"protein_id": "ENSP00000626301.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 481,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956242.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1326G>A",
"hgvs_p": "p.Glu442Glu",
"transcript": "ENST00000956246.1",
"protein_id": "ENSP00000626305.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 466,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956246.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Glu441Glu",
"transcript": "NM_001029835.2",
"protein_id": "NP_001025006.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 465,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029835.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Glu441Glu",
"transcript": "ENST00000381112.7",
"protein_id": "ENSP00000370503.3",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 465,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381112.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1320G>A",
"hgvs_p": "p.Glu440Glu",
"transcript": "ENST00000956249.1",
"protein_id": "ENSP00000626308.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 464,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956249.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Glu433Glu",
"transcript": "ENST00000860893.1",
"protein_id": "ENSP00000530952.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 457,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860893.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1254G>A",
"hgvs_p": "p.Glu418Glu",
"transcript": "ENST00000860890.1",
"protein_id": "ENSP00000530949.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 442,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860890.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1251G>A",
"hgvs_p": "p.Glu417Glu",
"transcript": "ENST00000956244.1",
"protein_id": "ENSP00000626303.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 441,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956244.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Glu414Glu",
"transcript": "ENST00000475551.5",
"protein_id": "ENSP00000417180.1",
"transcript_support_level": 2,
"aa_start": 414,
"aa_end": null,
"aa_length": 438,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475551.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1209G>A",
"hgvs_p": "p.Glu403Glu",
"transcript": "NM_001363459.2",
"protein_id": "NP_001350388.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 427,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363459.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1209G>A",
"hgvs_p": "p.Glu403Glu",
"transcript": "ENST00000860888.1",
"protein_id": "ENSP00000530947.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 427,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860888.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "ENST00000860887.1",
"protein_id": "ENSP00000530946.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860887.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Glu390Glu",
"transcript": "ENST00000860891.1",
"protein_id": "ENSP00000530950.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 414,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860891.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"hgvs_c": "c.1110G>A",
"hgvs_p": "p.Glu370Glu",
"transcript": "ENST00000956247.1",
"protein_id": "ENSP00000626306.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 394,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
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"feature": "ENST00000648329.1"
}
],
"gene_symbol": "CCM2",
"gene_hgnc_id": 21708,
"dbsnp": "rs2304691",
"frequency_reference_population": 0.0011747028,
"hom_count_reference_population": 17,
"allele_count_reference_population": 1895,
"gnomad_exomes_af": 0.00111101,
"gnomad_genomes_af": 0.00178548,
"gnomad_exomes_ac": 1623,
"gnomad_genomes_ac": 272,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.634,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001363458.2",
"gene_symbol": "CCM2",
"hgnc_id": 21708,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Glu461Glu"
}
],
"clinvar_disease": "Cerebral cavernous malformation 2,not specified",
"clinvar_classification": "Benign",
"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
}