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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: 15-65467217-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65467217&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65467217,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_197960.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "NM_130434.5",
"protein_id": "NP_569118.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 882,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300141.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130434.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000300141.11",
"protein_id": "ENSP00000300141.6",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 882,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130434.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300141.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1591G>A",
"hgvs_p": "p.Val531Ile",
"transcript": "ENST00000321147.10",
"protein_id": "ENSP00000318111.6",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 847,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321147.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Val99Ile",
"transcript": "ENST00000558559.1",
"protein_id": "ENSP00000452643.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 359,
"cds_start": 295,
"cds_end": null,
"cds_length": 1082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558559.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1591G>A",
"hgvs_p": "p.Val531Ile",
"transcript": "NM_001320875.2",
"protein_id": "NP_001307804.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 898,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320875.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1591G>A",
"hgvs_p": "p.Val531Ile",
"transcript": "NM_197960.4",
"protein_id": "NP_932064.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 898,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197960.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1591G>A",
"hgvs_p": "p.Val531Ile",
"transcript": "ENST00000341861.9",
"protein_id": "ENSP00000339208.5",
"transcript_support_level": 2,
"aa_start": 531,
"aa_end": null,
"aa_length": 898,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341861.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1591G>A",
"hgvs_p": "p.Val531Ile",
"transcript": "ENST00000559233.5",
"protein_id": "ENSP00000453954.1",
"transcript_support_level": 2,
"aa_start": 531,
"aa_end": null,
"aa_length": 898,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559233.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "ENST00000872750.1",
"protein_id": "ENSP00000542809.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 892,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872750.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"transcript": "ENST00000945908.1",
"protein_id": "ENSP00000615967.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 887,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945908.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "NM_001320876.2",
"protein_id": "NP_001307805.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 882,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320876.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000872743.1",
"protein_id": "ENSP00000542802.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 882,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872743.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000945898.1",
"protein_id": "ENSP00000615957.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 882,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945898.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000872747.1",
"protein_id": "ENSP00000542806.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 880,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872747.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"transcript": "ENST00000872761.1",
"protein_id": "ENSP00000542820.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 880,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872761.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"transcript": "ENST00000945902.1",
"protein_id": "ENSP00000615961.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 880,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945902.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000872741.1",
"protein_id": "ENSP00000542800.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 878,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872741.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000872746.1",
"protein_id": "ENSP00000542805.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 878,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872746.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"transcript": "NM_001438667.1",
"protein_id": "NP_001425596.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 855,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438667.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1591G>A",
"hgvs_p": "p.Val531Ile",
"transcript": "NM_197961.4",
"protein_id": "NP_932065.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 847,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197961.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "ENST00000872742.1",
"protein_id": "ENSP00000542801.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 845,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872742.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP8",
"gene_hgnc_id": 16490,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "ENST00000872756.1",
"protein_id": "ENSP00000542815.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 841,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
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{
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],
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"dbsnp": "rs760756541",
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"computational_score_selected": 0.2598651647567749,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.1005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.83,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_197960.4",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}