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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-20011017-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20011017&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20011017,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001168465.2",
"consequences": [
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Glu703Gly",
"transcript": "NM_001168465.2",
"protein_id": "NP_001161937.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 773,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379643.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168465.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Glu703Gly",
"transcript": "ENST00000379643.10",
"protein_id": "ENSP00000368964.5",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 773,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001168465.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379643.10"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Glu662Gly",
"transcript": "ENST00000379651.7",
"protein_id": "ENSP00000368972.3",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 732,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379651.7"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Glu728Gly",
"transcript": "ENST00000970014.1",
"protein_id": "ENSP00000640074.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 798,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970014.1"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000970005.1",
"protein_id": "ENSP00000640064.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 765,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970005.1"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Glu695Gly",
"transcript": "ENST00000970009.1",
"protein_id": "ENSP00000640069.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 765,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970009.1"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2060A>G",
"hgvs_p": "p.Glu687Gly",
"transcript": "ENST00000875378.1",
"protein_id": "ENSP00000545437.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 757,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875378.1"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2051A>G",
"hgvs_p": "p.Glu684Gly",
"transcript": "ENST00000970001.1",
"protein_id": "ENSP00000640062.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 754,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970001.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2030A>G",
"hgvs_p": "p.Glu677Gly",
"transcript": "ENST00000918363.1",
"protein_id": "ENSP00000588422.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 747,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918363.1"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Glu676Gly",
"transcript": "ENST00000875379.1",
"protein_id": "ENSP00000545438.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 746,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875379.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Glu662Gly",
"transcript": "NM_152780.4",
"protein_id": "NP_689993.2",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 732,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152780.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.Glu661Gly",
"transcript": "ENST00000970017.1",
"protein_id": "ENSP00000640076.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 731,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970017.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Glu658Gly",
"transcript": "ENST00000970007.1",
"protein_id": "ENSP00000640066.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 728,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970007.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1949A>G",
"hgvs_p": "p.Glu650Gly",
"transcript": "ENST00000875380.1",
"protein_id": "ENSP00000545439.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 720,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875380.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Glu639Gly",
"transcript": "ENST00000970016.1",
"protein_id": "ENSP00000640075.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 709,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970016.1"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Glu635Gly",
"transcript": "ENST00000970012.1",
"protein_id": "ENSP00000640071.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 705,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970012.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1850A>G",
"hgvs_p": "p.Glu617Gly",
"transcript": "NM_001168466.2",
"protein_id": "NP_001161938.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 687,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168466.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1850A>G",
"hgvs_p": "p.Glu617Gly",
"transcript": "ENST00000443379.7",
"protein_id": "ENSP00000388239.3",
"transcript_support_level": 2,
"aa_start": 617,
"aa_end": null,
"aa_length": 687,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443379.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1829A>G",
"hgvs_p": "p.Glu610Gly",
"transcript": "NM_001168467.2",
"protein_id": "NP_001161939.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 680,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168467.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1829A>G",
"hgvs_p": "p.Glu610Gly",
"transcript": "ENST00000452324.3",
"protein_id": "ENSP00000413301.3",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 680,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452324.3"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2207A>G",
"hgvs_p": "p.Glu736Gly",
"transcript": "XM_006724481.3",
"protein_id": "XP_006724544.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 806,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724481.3"
},
{
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Glu725Gly",
"transcript": "XM_011545483.2",
"protein_id": "XP_011543785.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 795,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}