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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: 22-42128173-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42128173&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42128173,
"ref": "CCTT",
"alt": "C",
"effect": "conservative_inframe_deletion,splice_region_variant",
"transcript": "NM_000106.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "NM_000106.6",
"protein_id": "NP_000097.3",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 497,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000645361.2",
"protein_id": "ENSP00000496150.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 497,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.688_690delAAG",
"hgvs_p": "p.Lys230del",
"transcript": "ENST00000359033.4",
"protein_id": "ENSP00000351927.4",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 446,
"cds_start": 688,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "n.688_690delAAG",
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.889_891delAAG",
"hgvs_p": "p.Lys297del",
"transcript": "ENST00000852671.1",
"protein_id": "ENSP00000522730.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 520,
"cds_start": 889,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.871_873delAAG",
"hgvs_p": "p.Lys291del",
"transcript": "ENST00000852679.1",
"protein_id": "ENSP00000522738.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 514,
"cds_start": 871,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.889_891delAAG",
"hgvs_p": "p.Lys297del",
"transcript": "ENST00000852654.1",
"protein_id": "ENSP00000522713.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 513,
"cds_start": 889,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.871_873delAAG",
"hgvs_p": "p.Lys291del",
"transcript": "ENST00000852657.1",
"protein_id": "ENSP00000522716.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 507,
"cds_start": 871,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000852651.1",
"protein_id": "ENSP00000522710.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 504,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.889_891delAAG",
"hgvs_p": "p.Lys297del",
"transcript": "ENST00000852661.1",
"protein_id": "ENSP00000522720.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 502,
"cds_start": 889,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000852665.1",
"protein_id": "ENSP00000522724.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 499,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.871_873delAAG",
"hgvs_p": "p.Lys291del",
"transcript": "ENST00000852660.1",
"protein_id": "ENSP00000522719.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 496,
"cds_start": 871,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000852674.1",
"protein_id": "ENSP00000522733.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 495,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000852666.1",
"protein_id": "ENSP00000522725.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 493,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.814_816delAAG",
"hgvs_p": "p.Lys272del",
"transcript": "ENST00000852675.1",
"protein_id": "ENSP00000522734.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 488,
"cds_start": 814,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000963586.1",
"protein_id": "ENSP00000633645.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 486,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.805_807delAAG",
"hgvs_p": "p.Lys269del",
"transcript": "ENST00000852678.1",
"protein_id": "ENSP00000522737.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 485,
"cds_start": 805,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000852676.1",
"protein_id": "ENSP00000522735.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 484,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.736_738delAAG",
"hgvs_p": "p.Lys246del",
"transcript": "ENST00000852662.1",
"protein_id": "ENSP00000522721.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 469,
"cds_start": 736,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del",
"transcript": "ENST00000852653.1",
"protein_id": "ENSP00000522712.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 468,
"cds_start": 841,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.736_738delAAG",
"hgvs_p": "p.Lys246del",
"transcript": "ENST00000852656.1",
"protein_id": "ENSP00000522715.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 462,
"cds_start": 736,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
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],
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"allele_count_reference_population": 39896,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.462,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 1,
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"dbscsnv_ada_score": null,
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"mitotip_score": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,PP3_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 16,
"pathogenic_score": 3,
"criteria": [
"PM4_Supporting",
"PP3_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000106.6",
"gene_symbol": "CYP2D6",
"hgnc_id": 2625,
"effects": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.841_843delAAG",
"hgvs_p": "p.Lys281del"
},
{
"score": -14,
"benign_score": 16,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000439129.5",
"gene_symbol": "NDUFA6-DT",
"hgnc_id": 45273,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1718+2769_1718+2771delTCT",
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}
],
"clinvar_disease": "Tramadol response,not provided",
"clinvar_classification": " other,Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 O:1",
"phenotype_combined": "Tramadol response|not provided",
"pathogenicity_classification_combined": "Likely benign; other",
"custom_annotations": null
}
],
"message": null
}