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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: 17-42021602-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42021602&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42021602,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017595.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "NM_017595.6",
"protein_id": "NP_060065.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393885.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017595.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000393885.9",
"protein_id": "ENSP00000377463.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017595.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393885.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000307641.9",
"protein_id": "ENSP00000303580.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307641.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "n.1187G>C",
"hgvs_p": null,
"transcript": "ENST00000393879.3",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000393879.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000316082.4",
"protein_id": "ENSP00000312773.4",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 25,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316082.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "NM_001001349.2",
"protein_id": "NP_001001349.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001349.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "NM_001144927.2",
"protein_id": "NP_001138399.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144927.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000393880.5",
"protein_id": "ENSP00000377458.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393880.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000393881.7",
"protein_id": "ENSP00000377459.3",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393881.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000891946.1",
"protein_id": "ENSP00000562005.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891946.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000920235.1",
"protein_id": "ENSP00000590294.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920235.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000953222.1",
"protein_id": "ENSP00000623281.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953222.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "NM_001144928.2",
"protein_id": "NP_001138400.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 135,
"cds_start": 25,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144928.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000449471.8",
"protein_id": "ENSP00000401976.4",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 135,
"cds_start": 25,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449471.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000891944.1",
"protein_id": "ENSP00000562003.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 135,
"cds_start": 25,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891944.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000891945.1",
"protein_id": "ENSP00000562004.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 135,
"cds_start": 25,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891945.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000920234.1",
"protein_id": "ENSP00000590293.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 135,
"cds_start": 25,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920234.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "NM_001144929.2",
"protein_id": "NP_001138401.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 97,
"cds_start": 25,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144929.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000479407.5",
"protein_id": "ENSP00000465633.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 97,
"cds_start": 25,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479407.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000585955.5",
"protein_id": "ENSP00000468081.1",
"transcript_support_level": 4,
"aa_start": 9,
"aa_end": null,
"aa_length": 45,
"cds_start": 25,
"cds_end": null,
"cds_length": 140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585955.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "ENST00000462043.6",
"protein_id": "ENSP00000419929.2",
"transcript_support_level": 4,
"aa_start": 9,
"aa_end": null,
"aa_length": 41,
"cds_start": 25,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462043.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKIRAS2",
"gene_hgnc_id": 17898,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Val9Leu",
"transcript": "XM_047435822.1",
"protein_id": "XP_047291778.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 191,
"cds_start": 25,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435822.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}