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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: 22-42126747-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42126747&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42126747,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000106.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441Cys",
"transcript": "NM_000106.6",
"protein_id": "NP_000097.3",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 497,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645361.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000106.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441Cys",
"transcript": "ENST00000645361.2",
"protein_id": "ENSP00000496150.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 497,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000106.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645361.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390Cys",
"transcript": "ENST00000359033.4",
"protein_id": "ENSP00000351927.4",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 446,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359033.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "n.*396C>T",
"hgvs_p": null,
"transcript": "ENST00000360124.10",
"protein_id": "ENSP00000353241.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000360124.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "n.*396C>T",
"hgvs_p": null,
"transcript": "ENST00000360124.10",
"protein_id": "ENSP00000353241.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000360124.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464Cys",
"transcript": "ENST00000852671.1",
"protein_id": "ENSP00000522730.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 520,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852671.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Cys",
"transcript": "ENST00000852679.1",
"protein_id": "ENSP00000522738.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 514,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852679.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "ENST00000852654.1",
"protein_id": "ENSP00000522713.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 513,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852654.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Arg451Cys",
"transcript": "ENST00000852657.1",
"protein_id": "ENSP00000522716.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 507,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852657.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Arg448Cys",
"transcript": "ENST00000852651.1",
"protein_id": "ENSP00000522710.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 504,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852651.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Cys",
"transcript": "ENST00000852661.1",
"protein_id": "ENSP00000522720.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 502,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852661.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.Arg443Cys",
"transcript": "ENST00000852665.1",
"protein_id": "ENSP00000522724.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 499,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852665.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440Cys",
"transcript": "ENST00000852660.1",
"protein_id": "ENSP00000522719.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 496,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852660.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "ENST00000852674.1",
"protein_id": "ENSP00000522733.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 495,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852674.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437Cys",
"transcript": "ENST00000852666.1",
"protein_id": "ENSP00000522725.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 493,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852666.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"transcript": "ENST00000852675.1",
"protein_id": "ENSP00000522734.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 488,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852675.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Arg430Cys",
"transcript": "ENST00000963586.1",
"protein_id": "ENSP00000633645.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 486,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963586.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429Cys",
"transcript": "ENST00000852678.1",
"protein_id": "ENSP00000522737.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 485,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852678.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Arg428Cys",
"transcript": "ENST00000852676.1",
"protein_id": "ENSP00000522735.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 484,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852676.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Arg413Cys",
"transcript": "ENST00000852662.1",
"protein_id": "ENSP00000522721.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 469,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852662.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Cys",
"transcript": "ENST00000852653.1",
"protein_id": "ENSP00000522712.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 468,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852653.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1216C>T",
"hgvs_p": "p.Arg406Cys",
"transcript": "ENST00000852656.1",
"protein_id": "ENSP00000522715.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 462,
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{
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],
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"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "drug response",
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}
],
"message": null
}