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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: 19-5212471-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5212471&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5212471,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000262963.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4635C>T",
"hgvs_p": "p.Arg1545Arg",
"transcript": "NM_002850.4",
"protein_id": "NP_002841.3",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1948,
"cds_start": 4635,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 4878,
"cdna_end": null,
"cdna_length": 7356,
"mane_select": "ENST00000262963.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4635C>T",
"hgvs_p": "p.Arg1545Arg",
"transcript": "ENST00000262963.11",
"protein_id": "ENSP00000262963.8",
"transcript_support_level": 5,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1948,
"cds_start": 4635,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 4878,
"cdna_end": null,
"cdna_length": 7356,
"mane_select": "NM_002850.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4635C>T",
"hgvs_p": "p.Arg1545Arg",
"transcript": "ENST00000587303.5",
"protein_id": "ENSP00000467537.1",
"transcript_support_level": 1,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1948,
"cds_start": 4635,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 4735,
"cdna_end": null,
"cdna_length": 6353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4521C>T",
"hgvs_p": "p.Arg1507Arg",
"transcript": "ENST00000588012.5",
"protein_id": "ENSP00000465443.1",
"transcript_support_level": 1,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1910,
"cds_start": 4521,
"cds_end": null,
"cds_length": 5733,
"cdna_start": 4544,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.3294C>T",
"hgvs_p": "p.Arg1098Arg",
"transcript": "ENST00000592099.5",
"protein_id": "ENSP00000467398.1",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1501,
"cds_start": 3294,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 4766,
"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": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "n.3576C>T",
"hgvs_p": null,
"transcript": "ENST00000588552.5",
"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": 5443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4569C>T",
"hgvs_p": "p.Arg1523Arg",
"transcript": "NM_001394011.1",
"protein_id": "NP_001380940.1",
"transcript_support_level": null,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1926,
"cds_start": 4569,
"cds_end": null,
"cds_length": 5781,
"cdna_start": 4812,
"cdna_end": null,
"cdna_length": 7290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4548C>T",
"hgvs_p": "p.Arg1516Arg",
"transcript": "NM_001394012.1",
"protein_id": "NP_001380941.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1919,
"cds_start": 4548,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 4791,
"cdna_end": null,
"cdna_length": 7269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4521C>T",
"hgvs_p": "p.Arg1507Arg",
"transcript": "NM_130854.3",
"protein_id": "NP_570924.2",
"transcript_support_level": null,
"aa_start": 1507,
"aa_end": null,
"aa_length": 1910,
"cds_start": 4521,
"cds_end": null,
"cds_length": 5733,
"cdna_start": 4764,
"cdna_end": null,
"cdna_length": 7242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4509C>T",
"hgvs_p": "p.Arg1503Arg",
"transcript": "NM_001394013.1",
"protein_id": "NP_001380942.1",
"transcript_support_level": null,
"aa_start": 1503,
"aa_end": null,
"aa_length": 1906,
"cds_start": 4509,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 4752,
"cdna_end": null,
"cdna_length": 7230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.3807C>T",
"hgvs_p": "p.Arg1269Arg",
"transcript": "ENST00000850941.1",
"protein_id": "ENSP00000521026.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1672,
"cds_start": 3807,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.3306C>T",
"hgvs_p": "p.Arg1102Arg",
"transcript": "NM_130855.3",
"protein_id": "NP_570925.2",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3306,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.3294C>T",
"hgvs_p": "p.Arg1098Arg",
"transcript": "NM_130853.3",
"protein_id": "NP_570923.2",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1501,
"cds_start": 3294,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4608C>T",
"hgvs_p": "p.Arg1536Arg",
"transcript": "XM_017027065.2",
"protein_id": "XP_016882554.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1939,
"cds_start": 4608,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4807,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4608C>T",
"hgvs_p": "p.Arg1536Arg",
"transcript": "XM_017027066.2",
"protein_id": "XP_016882555.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1939,
"cds_start": 4608,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4851,
"cdna_end": null,
"cdna_length": 7329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4608C>T",
"hgvs_p": "p.Arg1536Arg",
"transcript": "XM_017027067.2",
"protein_id": "XP_016882556.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1939,
"cds_start": 4608,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4757,
"cdna_end": null,
"cdna_length": 7235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4596C>T",
"hgvs_p": "p.Arg1532Arg",
"transcript": "XM_005259600.3",
"protein_id": "XP_005259657.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1935,
"cds_start": 4596,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 4795,
"cdna_end": null,
"cdna_length": 7273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4596C>T",
"hgvs_p": "p.Arg1532Arg",
"transcript": "XM_017027068.2",
"protein_id": "XP_016882557.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1935,
"cds_start": 4596,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 4795,
"cdna_end": null,
"cdna_length": 7273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4596C>T",
"hgvs_p": "p.Arg1532Arg",
"transcript": "XM_047439155.1",
"protein_id": "XP_047295111.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1935,
"cds_start": 4596,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4596C>T",
"hgvs_p": "p.Arg1532Arg",
"transcript": "XM_047439156.1",
"protein_id": "XP_047295112.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1935,
"cds_start": 4596,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 4745,
"cdna_end": null,
"cdna_length": 7223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4584C>T",
"hgvs_p": "p.Arg1528Arg",
"transcript": "XM_047439157.1",
"protein_id": "XP_047295113.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1931,
"cds_start": 4584,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 4783,
"cdna_end": null,
"cdna_length": 7261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
"gene_hgnc_id": 9681,
"hgvs_c": "c.4581C>T",
"hgvs_p": "p.Arg1527Arg",
"transcript": "XM_017027069.2",
"protein_id": "XP_016882558.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 1930,
"cds_start": 4581,
"cds_end": null,
"cds_length": 5793,
"cdna_start": 4780,
"cdna_end": null,
"cdna_length": 7258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRS",
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