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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: 8-116847643-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=116847643&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 116847643,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006265.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "NM_006265.3",
"protein_id": "NP_006256.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297338.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006265.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000297338.7",
"protein_id": "ENSP00000297338.2",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006265.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297338.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000517749.2",
"protein_id": "ENSP00000430273.2",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517749.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000517485.6",
"protein_id": "ENSP00000427923.2",
"transcript_support_level": 3,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517485.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000519837.6",
"protein_id": "ENSP00000430524.2",
"transcript_support_level": 4,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519837.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000520992.6",
"protein_id": "ENSP00000429342.2",
"transcript_support_level": 4,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520992.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000522699.2",
"protein_id": "ENSP00000428158.2",
"transcript_support_level": 3,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522699.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000687358.1",
"protein_id": "ENSP00000509687.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687358.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000900009.1",
"protein_id": "ENSP00000570068.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900009.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000900010.1",
"protein_id": "ENSP00000570069.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900010.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000927340.1",
"protein_id": "ENSP00000597399.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927340.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Cys585Arg",
"transcript": "ENST00000958519.1",
"protein_id": "ENSP00000628578.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 631,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958519.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1747T>C",
"hgvs_p": "p.Cys583Arg",
"transcript": "ENST00000927337.1",
"protein_id": "ENSP00000597396.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 629,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927337.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1747T>C",
"hgvs_p": "p.Cys583Arg",
"transcript": "ENST00000927338.1",
"protein_id": "ENSP00000597397.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 629,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927338.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1744T>C",
"hgvs_p": "p.Cys582Arg",
"transcript": "ENST00000958517.1",
"protein_id": "ENSP00000628576.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 628,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958517.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1669T>C",
"hgvs_p": "p.Cys557Arg",
"transcript": "ENST00000900008.1",
"protein_id": "ENSP00000570067.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 603,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900008.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1669T>C",
"hgvs_p": "p.Cys557Arg",
"transcript": "ENST00000900011.1",
"protein_id": "ENSP00000570070.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 603,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900011.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1654T>C",
"hgvs_p": "p.Cys552Arg",
"transcript": "ENST00000927341.1",
"protein_id": "ENSP00000597400.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 598,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927341.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.1654T>C",
"hgvs_p": "p.Cys552Arg",
"transcript": "ENST00000958518.1",
"protein_id": "ENSP00000628577.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 598,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958518.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.418T>C",
"hgvs_p": "p.Cys140Arg",
"transcript": "ENST00000927339.1",
"protein_id": "ENSP00000597398.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 186,
"cds_start": 418,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927339.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.193T>C",
"hgvs_p": "p.Cys65Arg",
"transcript": "ENST00000958516.1",
"protein_id": "ENSP00000628575.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 111,
"cds_start": 193,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958516.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UTP23",
"gene_hgnc_id": 28224,
"hgvs_c": "c.189-1245A>G",
"hgvs_p": null,
"transcript": "ENST00000517820.1",
"protein_id": "ENSP00000427767.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"pathogenic_score": 9,
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"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006265.3",
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"inheritance_mode": "AD,Unknown",
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{
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"PM2",
"PP3_Moderate",
"PP5"
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"verdict": "Likely_pathogenic",
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"inheritance_mode": "AR",
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{
"score": 9,
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"PP5"
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"verdict": "Likely_pathogenic",
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"gene_symbol": "LOC112268030",
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"effects": [
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],
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}
],
"clinvar_disease": "Cornelia de Lange syndrome 4,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:1 O:1",
"phenotype_combined": "Cornelia de Lange syndrome 4|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}