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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: X-101353336-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101353336&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101353336,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001287344.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "NM_000061.3",
"protein_id": "NP_000052.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "ENST00000308731.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000061.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "ENST00000308731.8",
"protein_id": "ENSP00000308176.8",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": "NM_000061.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308731.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Glu623Gly",
"transcript": "ENST00000621635.4",
"protein_id": "ENSP00000483570.1",
"transcript_support_level": 1,
"aa_start": 623,
"aa_end": null,
"aa_length": 693,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621635.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Glu623Gly",
"transcript": "NM_001287344.2",
"protein_id": "NP_001274273.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 693,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287344.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1847A>G",
"hgvs_p": "p.Glu616Gly",
"transcript": "ENST00000944957.1",
"protein_id": "ENSP00000615016.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 686,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944957.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "ENST00000695614.1",
"protein_id": "ENSP00000512053.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695614.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "ENST00000695615.1",
"protein_id": "ENSP00000512054.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695615.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "ENST00000896540.1",
"protein_id": "ENSP00000566599.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896540.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "ENST00000944955.1",
"protein_id": "ENSP00000615014.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 659,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944955.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1763A>G",
"hgvs_p": "p.Glu588Gly",
"transcript": "ENST00000695617.1",
"protein_id": "ENSP00000512056.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 658,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695617.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Glu587Gly",
"transcript": "ENST00000695623.1",
"protein_id": "ENSP00000512063.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 657,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695623.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Glu589Gly",
"transcript": "ENST00000695625.1",
"protein_id": "ENSP00000512064.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 648,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695625.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1703A>G",
"hgvs_p": "p.Glu568Gly",
"transcript": "ENST00000695622.1",
"protein_id": "ENSP00000512062.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 638,
"cds_start": 1703,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695622.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1667A>G",
"hgvs_p": "p.Glu556Gly",
"transcript": "ENST00000914420.1",
"protein_id": "ENSP00000584479.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 626,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914420.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1637A>G",
"hgvs_p": "p.Glu546Gly",
"transcript": "ENST00000944956.1",
"protein_id": "ENSP00000615015.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 616,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944956.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Glu544Gly",
"transcript": "ENST00000944958.1",
"protein_id": "ENSP00000615017.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 614,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944958.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Glu413Gly",
"transcript": "NM_001287345.2",
"protein_id": "NP_001274274.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 483,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287345.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Glu413Gly",
"transcript": "ENST00000703407.1",
"protein_id": "ENSP00000512057.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 483,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703407.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Glu164Gly",
"transcript": "ENST00000695630.1",
"protein_id": "ENSP00000512069.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 234,
"cds_start": 491,
"cds_end": null,
"cds_length": 705,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695630.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Glu69Gly",
"transcript": "ENST00000695629.1",
"protein_id": "ENSP00000512068.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 139,
"cds_start": 206,
"cds_end": null,
"cds_length": 420,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "c.113-88A>G",
"hgvs_p": null,
"transcript": "ENST00000695631.1",
"protein_id": "ENSP00000512070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTK",
"gene_hgnc_id": 1133,
"hgvs_c": "n.131A>G",
"hgvs_p": null,
"transcript": "ENST00000470069.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 424,
"mane_select": null,
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}
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}