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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: 2-162014451-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162014451&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 162014451,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001935.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Met528Val",
"transcript": "NM_001935.4",
"protein_id": "NP_001926.2",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 766,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": "ENST00000360534.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001935.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Met528Val",
"transcript": "ENST00000360534.8",
"protein_id": "ENSP00000353731.3",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 766,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": "NM_001935.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360534.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.*1301A>G",
"hgvs_p": null,
"transcript": "ENST00000434918.6",
"protein_id": "ENSP00000402259.2",
"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": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434918.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.*1301A>G",
"hgvs_p": null,
"transcript": "ENST00000434918.6",
"protein_id": "ENSP00000402259.2",
"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": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434918.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1579A>G",
"hgvs_p": "p.Met527Val",
"transcript": "NM_001379604.1",
"protein_id": "NP_001366533.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 765,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379604.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1579A>G",
"hgvs_p": "p.Met527Val",
"transcript": "ENST00000676810.1",
"protein_id": "ENSP00000503161.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 765,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676810.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1576A>G",
"hgvs_p": "p.Met526Val",
"transcript": "NM_001379605.1",
"protein_id": "NP_001366534.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 764,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379605.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Met528Val",
"transcript": "ENST00000881343.1",
"protein_id": "ENSP00000551402.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 764,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881343.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1528A>G",
"hgvs_p": "p.Met510Val",
"transcript": "NM_001379606.1",
"protein_id": "NP_001366535.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 748,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379606.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1528A>G",
"hgvs_p": "p.Met510Val",
"transcript": "ENST00000881342.1",
"protein_id": "ENSP00000551401.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 748,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881342.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Met528Val",
"transcript": "ENST00000676768.1",
"protein_id": "ENSP00000503008.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 734,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676768.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Met236Val",
"transcript": "ENST00000678668.1",
"protein_id": "ENSP00000504418.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 474,
"cds_start": 706,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.*1276A>G",
"hgvs_p": null,
"transcript": "ENST00000416189.6",
"protein_id": "ENSP00000401359.2",
"transcript_support_level": 5,
"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": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416189.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.1576A>G",
"hgvs_p": null,
"transcript": "ENST00000490286.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490286.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.352A>G",
"hgvs_p": null,
"transcript": "ENST00000491591.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.*1276A>G",
"hgvs_p": null,
"transcript": "ENST00000494507.2",
"protein_id": "ENSP00000503735.1",
"transcript_support_level": 2,
"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": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494507.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.*1585A>G",
"hgvs_p": null,
"transcript": "ENST00000676479.1",
"protein_id": "ENSP00000504273.1",
"transcript_support_level": null,
"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": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.*1329A>G",
"hgvs_p": null,
"transcript": "ENST00000676624.1",
"protein_id": "ENSP00000503481.1",
"transcript_support_level": null,
"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": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.1736A>G",
"hgvs_p": null,
"transcript": "ENST00000676996.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676996.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.1241A>G",
"hgvs_p": null,
"transcript": "ENST00000677015.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.1763A>G",
"hgvs_p": null,
"transcript": "ENST00000677212.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP4",
"gene_hgnc_id": 3009,
"hgvs_c": "n.1816A>G",
"hgvs_p": null,
"transcript": "ENST00000678522.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678522.1"
},
{
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
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{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001935.4",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}