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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: 22-29512122-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29512122&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29512122,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003678.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "NM_003678.5",
"protein_id": "NP_003669.4",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000490103.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003678.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000490103.6",
"protein_id": "ENSP00000420306.1",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003678.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490103.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1846G>T",
"hgvs_p": "p.Ala616Ser",
"transcript": "ENST00000853420.1",
"protein_id": "ENSP00000523479.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 733,
"cds_start": 1846,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853420.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1750G>T",
"hgvs_p": "p.Ala584Ser",
"transcript": "ENST00000928658.1",
"protein_id": "ENSP00000598717.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 701,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928658.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1747G>T",
"hgvs_p": "p.Ala583Ser",
"transcript": "ENST00000957725.1",
"protein_id": "ENSP00000627784.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957725.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1726G>T",
"hgvs_p": "p.Ala576Ser",
"transcript": "ENST00000957724.1",
"protein_id": "ENSP00000627783.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 693,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957724.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "NM_001002877.2",
"protein_id": "NP_001002877.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002877.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "NM_001002878.1",
"protein_id": "NP_001002878.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002878.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "NM_001002879.1",
"protein_id": "NP_001002879.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002879.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000397871.5",
"protein_id": "ENSP00000380969.1",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397871.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000397872.5",
"protein_id": "ENSP00000380970.1",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397872.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000397873.6",
"protein_id": "ENSP00000380971.2",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397873.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000853415.1",
"protein_id": "ENSP00000523474.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853415.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000853418.1",
"protein_id": "ENSP00000523477.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853418.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000853421.1",
"protein_id": "ENSP00000523480.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853421.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000928651.1",
"protein_id": "ENSP00000598709.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928651.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1696G>T",
"hgvs_p": "p.Ala566Ser",
"transcript": "ENST00000928652.1",
"protein_id": "ENSP00000598711.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 683,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928652.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1693G>T",
"hgvs_p": "p.Ala565Ser",
"transcript": "ENST00000853419.1",
"protein_id": "ENSP00000523478.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 682,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853419.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1687G>T",
"hgvs_p": "p.Ala563Ser",
"transcript": "ENST00000928656.1",
"protein_id": "ENSP00000598715.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 680,
"cds_start": 1687,
"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": "ENST00000928656.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1594G>T",
"hgvs_p": "p.Ala532Ser",
"transcript": "ENST00000928654.1",
"protein_id": "ENSP00000598713.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 649,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928654.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Ala528Ser",
"transcript": "ENST00000853417.1",
"protein_id": "ENSP00000523476.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 645,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853417.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Ala528Ser",
"transcript": "ENST00000957726.1",
"protein_id": "ENSP00000627785.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 645,
"cds_start": 1582,
"cds_end": null,
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"cdna_start": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 1,
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003678.5",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}