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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: 21-36045589-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36045589&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36045589,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000332131.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "NM_017438.5",
"protein_id": "NP_059134.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": "ENST00000332131.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "ENST00000332131.9",
"protein_id": "ENSP00000329189.4",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": "NM_017438.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000399212.5",
"protein_id": "ENSP00000382161.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 416,
"cds_start": 647,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "ENST00000399208.6",
"protein_id": "ENSP00000382159.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 307,
"cds_start": 719,
"cds_end": null,
"cds_length": 924,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000399201.5",
"protein_id": "ENSP00000382152.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 283,
"cds_start": 647,
"cds_end": null,
"cds_length": 852,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000399205.5",
"protein_id": "ENSP00000382156.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 283,
"cds_start": 647,
"cds_end": null,
"cds_length": 852,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "n.705A>G",
"hgvs_p": null,
"transcript": "ENST00000481477.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "ENST00000399215.5",
"protein_id": "ENSP00000382163.1",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_001286752.2",
"protein_id": "NP_001273681.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 416,
"cds_start": 647,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "NM_001007259.3",
"protein_id": "NP_001007260.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 307,
"cds_start": 719,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "ENST00000399207.5",
"protein_id": "ENSP00000382158.1",
"transcript_support_level": 3,
"aa_start": 240,
"aa_end": null,
"aa_length": 307,
"cds_start": 719,
"cds_end": null,
"cds_length": 924,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_001007261.3",
"protein_id": "NP_001007262.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 283,
"cds_start": 647,
"cds_end": null,
"cds_length": 852,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_011529636.3",
"protein_id": "XP_011527938.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_011529637.3",
"protein_id": "XP_011527939.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_011529638.3",
"protein_id": "XP_011527940.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_011529639.2",
"protein_id": "XP_011527941.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
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"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_011529640.4",
"protein_id": "XP_011527942.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_047440904.1",
"protein_id": "XP_047296860.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "XM_047440905.1",
"protein_id": "XP_047296861.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 440,
"cds_start": 719,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "XM_011529643.2",
"protein_id": "XP_011527945.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 416,
"cds_start": 647,
"cds_end": null,
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"cdna_start": 1029,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "XM_011529644.2",
"protein_id": "XP_011527946.1",
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"aa_start": 216,
"aa_end": null,
"aa_length": 416,
"cds_start": 647,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "XM_047440906.1",
"protein_id": "XP_047296862.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 416,
"cds_start": 647,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD4",
"gene_hgnc_id": 1258,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "XM_047440907.1",
"protein_id": "XP_047296863.1",
"transcript_support_level": null,
"aa_start": 216,
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"phenotype_combined": "not specified",
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}
],
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}