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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: 2-230213010-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230213010&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230213010,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000258381.11",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "NM_080424.4",
"protein_id": "NP_536349.3",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 713,
"cds_start": 334,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": "ENST00000258381.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000258381.11",
"protein_id": "ENSP00000258381.6",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 713,
"cds_start": 334,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": "NM_080424.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000358662.9",
"protein_id": "ENSP00000351488.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 689,
"cds_start": 334,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000258382.10",
"protein_id": "ENSP00000258382.5",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 549,
"cds_start": 334,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000392048.7",
"protein_id": "ENSP00000375902.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 547,
"cds_start": 334,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "NM_001378442.1",
"protein_id": "NP_001365371.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 745,
"cds_start": 352,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "NM_001378443.1",
"protein_id": "NP_001365372.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 739,
"cds_start": 334,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 6270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "NM_001378444.1",
"protein_id": "NP_001365373.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 719,
"cds_start": 352,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "NM_001378445.1",
"protein_id": "NP_001365374.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 695,
"cds_start": 352,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "NM_004509.5",
"protein_id": "NP_004500.4",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 689,
"cds_start": 334,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "NM_001378446.1",
"protein_id": "NP_001365375.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 648,
"cds_start": 352,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "NM_001185015.2",
"protein_id": "NP_001171944.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 555,
"cds_start": 352,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "ENST00000540870.5",
"protein_id": "ENSP00000439558.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 555,
"cds_start": 352,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "NM_004510.4",
"protein_id": "NP_004501.4",
"transcript_support_level": null,
"aa_start": 112,
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"aa_length": 549,
"cds_start": 334,
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"cdna_start": 446,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000489597.2",
"protein_id": "ENSP00000513565.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 532,
"cds_start": 334,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "NM_001378447.1",
"protein_id": "NP_001365376.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
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"cdna_start": 446,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000698103.1",
"protein_id": "ENSP00000513567.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 482,
"cds_start": 334,
"cds_end": null,
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"cdna_start": 475,
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"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "ENST00000409815.6",
"protein_id": "ENSP00000387172.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 220,
"cds_start": 334,
"cds_end": null,
"cds_length": 665,
"cdna_start": 482,
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"cdna_length": 813,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Trp66Arg",
"transcript": "ENST00000455674.2",
"protein_id": "ENSP00000393992.1",
"transcript_support_level": 4,
"aa_start": 66,
"aa_end": null,
"aa_length": 159,
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"cdna_start": 316,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "XM_017003968.3",
"protein_id": "XP_016859457.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 745,
"cds_start": 352,
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"cdna_start": 696,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "XM_011511090.4",
"protein_id": "XP_011509392.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Trp118Arg",
"transcript": "XM_011511091.4",
"protein_id": "XP_011509393.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 672,
"cds_start": 352,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Trp112Arg",
"transcript": "XM_047444120.1",
"protein_id": "XP_047300076.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 642,
"cds_start": 334,
"cds_end": null,
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],
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"phenotype_combined": "not specified|Hepatic veno-occlusive disease-immunodeficiency syndrome|not provided",
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}
],
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}