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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: 11-792640-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=792640&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 792640,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000628067.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001191061.2",
"protein_id": "NP_001177990.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "ENST00000628067.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000628067.3",
"protein_id": "ENSP00000486058.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "NM_001191061.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000320230.9",
"protein_id": "ENSP00000322020.5",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"transcript": "NM_001425334.1",
"protein_id": "NP_001412263.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 348,
"cds_start": 575,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"transcript": "NM_001425335.1",
"protein_id": "NP_001412264.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 336,
"cds_start": 539,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Gln",
"transcript": "NM_001425336.1",
"protein_id": "NP_001412265.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 328,
"cds_start": 515,
"cds_end": null,
"cds_length": 987,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001191060.2",
"protein_id": "NP_001177989.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001425337.1",
"protein_id": "NP_001412266.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001425338.1",
"protein_id": "NP_001412267.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001425339.1",
"protein_id": "NP_001412268.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_024698.6",
"protein_id": "NP_078974.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000531214.5",
"protein_id": "ENSP00000437236.1",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"transcript": "NM_001425340.1",
"protein_id": "NP_001412269.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 322,
"cds_start": 497,
"cds_end": null,
"cds_length": 969,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"transcript": "NM_001425341.1",
"protein_id": "NP_001412270.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 319,
"cds_start": 488,
"cds_end": null,
"cds_length": 960,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"transcript": "ENST00000481290.5",
"protein_id": "ENSP00000431829.2",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 312,
"cds_start": 575,
"cds_end": null,
"cds_length": 939,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001425342.1",
"protein_id": "NP_001412271.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 283,
"cds_start": 500,
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"cdna_start": 728,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001425343.1",
"protein_id": "NP_001412272.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 270,
"cds_start": 500,
"cds_end": null,
"cds_length": 813,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000627843.2",
"protein_id": "ENSP00000486512.1",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 246,
"cds_start": 500,
"cds_end": null,
"cds_length": 741,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61Gln",
"transcript": "NM_001425344.1",
"protein_id": "NP_001412273.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 217,
"cds_start": 182,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000625419.2",
"protein_id": "ENSP00000485719.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 196,
"cds_start": 500,
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"cds_length": 591,
"cdna_start": 725,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"transcript": "ENST00000531437.5",
"protein_id": "ENSP00000435862.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 195,
"cds_start": 488,
"cds_end": null,
"cds_length": 589,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000532484.5",
"protein_id": "ENSP00000431466.2",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 189,
"cds_start": 500,
"cds_end": null,
"cds_length": 570,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.500G>A",
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:2",
"phenotype_combined": "Early myoclonic encephalopathy|not provided|Developmental and epileptic encephalopathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}