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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: 1-246591660-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=246591660&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 246591660,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152609.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_152609.3",
"protein_id": "NP_689822.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366513.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152609.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000366513.9",
"protein_id": "ENSP00000355470.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152609.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366513.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000366512.7",
"protein_id": "ENSP00000355469.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 616,
"cds_start": 98,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366512.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963608.1",
"protein_id": "ENSP00000633667.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 766,
"cds_start": 98,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963608.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857031.1",
"protein_id": "ENSP00000527090.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 750,
"cds_start": 98,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857031.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963610.1",
"protein_id": "ENSP00000633669.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 747,
"cds_start": 98,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963610.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857030.1",
"protein_id": "ENSP00000527089.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 742,
"cds_start": 98,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857030.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857038.1",
"protein_id": "ENSP00000527097.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 742,
"cds_start": 98,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857038.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857032.1",
"protein_id": "ENSP00000527091.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857032.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857035.1",
"protein_id": "ENSP00000527094.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857035.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857036.1",
"protein_id": "ENSP00000527095.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857036.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857037.1",
"protein_id": "ENSP00000527096.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857037.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857039.1",
"protein_id": "ENSP00000527098.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857039.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857040.1",
"protein_id": "ENSP00000527099.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
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"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857040.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000920406.1",
"protein_id": "ENSP00000590465.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920406.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963611.1",
"protein_id": "ENSP00000633670.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963611.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000963609.1",
"protein_id": "ENSP00000633668.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 717,
"cds_start": 98,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963609.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857033.1",
"protein_id": "ENSP00000527092.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 682,
"cds_start": 98,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857033.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001139459.2",
"protein_id": "NP_001132931.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 616,
"cds_start": 98,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139459.2"
},
{
"aa_ref": "P",
"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": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000857034.1",
"protein_id": "ENSP00000527093.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 539,
"cds_start": 98,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857034.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Pro89Leu",
"transcript": "XM_005273081.4",
"protein_id": "XP_005273138.3",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 781,
"cds_start": 266,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273081.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_011544110.4",
"protein_id": "XP_011542412.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 725,
"cds_start": 98,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544110.4"
},
{
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{
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],
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"computational_score_selected": 0.24997150897979736,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_152609.3",
"gene_symbol": "CNST",
"hgnc_id": 26486,
"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000783270.1",
"gene_symbol": "ENSG00000301995",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
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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
}