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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: 11-47268596-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47268596&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47268596,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000441012.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "NM_005693.4",
"protein_id": "NP_005684.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "ENST00000441012.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "ENST00000441012.7",
"protein_id": "ENSP00000387946.2",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "NM_005693.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000616973.4",
"protein_id": "ENSP00000477707.1",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 453,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "ENST00000467728.5",
"protein_id": "ENSP00000420656.1",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370Gln",
"transcript": "ENST00000395397.7",
"protein_id": "ENSP00000378793.3",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 402,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000405853.7",
"protein_id": "ENSP00000384745.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 387,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "ENST00000481889.6",
"protein_id": "ENSP00000433271.1",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 466,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "NM_001251934.2",
"protein_id": "NP_001238863.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 453,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "NM_001251935.2",
"protein_id": "NP_001238864.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 453,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370Gln",
"transcript": "NM_001130102.3",
"protein_id": "NP_001123574.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 402,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "NM_001130101.3",
"protein_id": "NP_001123573.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 387,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "ENST00000407404.5",
"protein_id": "ENSP00000385801.1",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 387,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "NM_001363595.2",
"protein_id": "NP_001350524.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 342,
"cds_start": 929,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "ENST00000405576.5",
"protein_id": "ENSP00000385073.1",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 342,
"cds_start": 929,
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"cdna_start": 1105,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.791G>A",
"hgvs_p": "p.Arg264Gln",
"transcript": "ENST00000527949.1",
"protein_id": "ENSP00000432073.1",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 296,
"cds_start": 791,
"cds_end": null,
"cds_length": 891,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"transcript": "NM_001438447.1",
"protein_id": "NP_001425376.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 253,
"cds_start": 662,
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"cdna_start": 783,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"transcript": "NM_001438448.1",
"protein_id": "NP_001425377.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 235,
"cds_start": 608,
"cds_end": null,
"cds_length": 708,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "XM_005252706.2",
"protein_id": "XP_005252763.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "XM_011519805.3",
"protein_id": "XP_011518107.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
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"cds_start": 1244,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "XM_047426194.1",
"protein_id": "XP_047282150.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1244,
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"cdna_start": 2465,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415Gln",
"transcript": "XM_047426195.1",
"protein_id": "XP_047282151.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370Gln",
"transcript": "XM_024448298.2",
"protein_id": "XP_024304066.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 402,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Multiple sclerosis",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}