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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: 1-158354623-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=158354623&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 158354623,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030893.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_030893.4",
"protein_id": "NP_112155.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 388,
"cds_start": 305,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368167.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030893.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368167.8",
"protein_id": "ENSP00000357149.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 388,
"cds_start": 305,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030893.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368167.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368160.7",
"protein_id": "ENSP00000357142.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 376,
"cds_start": 305,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368160.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368163.7",
"protein_id": "ENSP00000357145.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 321,
"cds_start": 305,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368163.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368165.7",
"protein_id": "ENSP00000357147.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 298,
"cds_start": 305,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368165.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368161.7",
"protein_id": "ENSP00000357143.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 290,
"cds_start": 305,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368161.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368156.5",
"protein_id": "ENSP00000357138.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 286,
"cds_start": 305,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368156.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000368155.7",
"protein_id": "ENSP00000357137.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 231,
"cds_start": 305,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368155.7"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.58+577A>G",
"hgvs_p": null,
"transcript": "ENST00000444681.6",
"protein_id": "ENSP00000402906.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444681.6"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.58+577A>G",
"hgvs_p": null,
"transcript": "ENST00000452291.6",
"protein_id": "ENSP00000416228.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452291.6"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.58+577A>G",
"hgvs_p": null,
"transcript": "ENST00000368166.7",
"protein_id": "ENSP00000357148.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368166.7"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.58+577A>G",
"hgvs_p": null,
"transcript": "ENST00000368154.5",
"protein_id": "ENSP00000357136.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368154.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.58+577A>G",
"hgvs_p": null,
"transcript": "ENST00000368157.5",
"protein_id": "ENSP00000357139.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368157.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.58+577A>G",
"hgvs_p": null,
"transcript": "ENST00000368164.7",
"protein_id": "ENSP00000357146.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368164.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_001042583.3",
"protein_id": "NP_001036048.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 376,
"cds_start": 305,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042583.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "ENST00000882313.1",
"protein_id": "ENSP00000552372.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 333,
"cds_start": 305,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882313.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_001042585.3",
"protein_id": "NP_001036050.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 321,
"cds_start": 305,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042585.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_001185107.2",
"protein_id": "NP_001172036.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 298,
"cds_start": 305,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185107.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_001042584.3",
"protein_id": "NP_001036049.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 290,
"cds_start": 305,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042584.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_001185115.2",
"protein_id": "NP_001172044.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 286,
"cds_start": 305,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185115.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "NM_001185108.2",
"protein_id": "NP_001172037.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 231,
"cds_start": 305,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185108.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.His102Arg",
"transcript": "XM_011510133.4",
"protein_id": "XP_011508435.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 333,
"cds_start": 305,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510133.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"phenotype_combined": "not provided",
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}
],
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}