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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: 22-42129075-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42129075&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP2D6",
"hgnc_id": 2625,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_000106.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NDUFA6-DT",
"hgnc_id": 45273,
"hgvs_c": "n.1718+3668C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000439129.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 3671,
"alphamissense_prediction": null,
"alphamissense_score": 0.1257,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006427139043807983,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 497,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1494,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000106.6",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645361.2",
"protein_coding": true,
"protein_id": "NP_000097.3",
"strand": false,
"transcript": "NM_000106.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 497,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1494,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645361.2",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000106.6",
"protein_coding": true,
"protein_id": "ENSP00000496150.1",
"strand": false,
"transcript": "ENST00000645361.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 446,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": null,
"cds_end": null,
"cds_length": 1341,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359033.4",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.353-131G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351927.4",
"strand": false,
"transcript": "ENST00000359033.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360124.10",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "n.353-131G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000353241.6",
"strand": false,
"transcript": "ENST00000360124.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 520,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1563,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852671.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522730.1",
"strand": false,
"transcript": "ENST00000852671.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1545,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852679.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522738.1",
"strand": false,
"transcript": "ENST00000852679.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 513,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1542,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852654.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522713.1",
"strand": false,
"transcript": "ENST00000852654.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1524,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852657.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522716.1",
"strand": false,
"transcript": "ENST00000852657.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 504,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1515,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852651.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522710.1",
"strand": false,
"transcript": "ENST00000852651.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 502,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1509,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852661.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522720.1",
"strand": false,
"transcript": "ENST00000852661.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 499,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1500,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852665.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522724.1",
"strand": false,
"transcript": "ENST00000852665.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1491,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852660.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522719.1",
"strand": false,
"transcript": "ENST00000852660.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 495,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1488,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852674.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522733.1",
"strand": false,
"transcript": "ENST00000852674.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 493,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1482,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852666.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522725.1",
"strand": false,
"transcript": "ENST00000852666.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 488,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1467,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852675.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522734.1",
"strand": false,
"transcript": "ENST00000852675.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1461,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963586.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633645.1",
"strand": false,
"transcript": "ENST00000963586.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 485,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1458,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852678.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522737.1",
"strand": false,
"transcript": "ENST00000852678.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 484,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1455,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852676.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522735.1",
"strand": false,
"transcript": "ENST00000852676.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 468,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1407,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852653.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522712.1",
"strand": false,
"transcript": "ENST00000852653.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 461,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1386,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852663.1",
"gene_hgnc_id": 2625,
"gene_symbol": "CYP2D6",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522722.1",
"strand": false,
"transcript": "ENST00000852663.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 445,
"aa_ref": "E",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
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