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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: 22-29529216-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29529216&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29529216,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003678.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "NM_003678.5",
"protein_id": "NP_003669.4",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000490103.6",
"protein_id": "ENSP00000420306.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000853420.1",
"protein_id": "ENSP00000523479.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 733,
"cds_start": 1021,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Glu309Lys",
"transcript": "ENST00000928658.1",
"protein_id": "ENSP00000598717.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 701,
"cds_start": 925,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "ENST00000957725.1",
"protein_id": "ENSP00000627784.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 700,
"cds_start": 922,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Glu302Lys",
"transcript": "ENST00000957724.1",
"protein_id": "ENSP00000627783.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 693,
"cds_start": 904,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "NM_001002877.2",
"protein_id": "NP_001002877.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "NM_001002878.1",
"protein_id": "NP_001002878.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "NM_001002879.1",
"protein_id": "NP_001002879.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000397871.5",
"protein_id": "ENSP00000380969.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000397872.5",
"protein_id": "ENSP00000380970.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000397873.6",
"protein_id": "ENSP00000380971.2",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000853415.1",
"protein_id": "ENSP00000523474.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000853418.1",
"protein_id": "ENSP00000523477.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000853421.1",
"protein_id": "ENSP00000523480.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000928651.1",
"protein_id": "ENSP00000598709.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000928652.1",
"protein_id": "ENSP00000598711.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 683,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000853419.1",
"protein_id": "ENSP00000523478.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 682,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000928656.1",
"protein_id": "ENSP00000598715.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 680,
"cds_start": 862,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Glu291Lys",
"transcript": "ENST00000928654.1",
"protein_id": "ENSP00000598713.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 649,
"cds_start": 871,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Glu253Lys",
"transcript": "ENST00000853417.1",
"protein_id": "ENSP00000523476.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 645,
"cds_start": 757,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC5",
"gene_hgnc_id": 19074,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Glu253Lys",
"transcript": "ENST00000957726.1",
"protein_id": "ENSP00000627785.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 645,
"cds_start": 757,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003678.5",
"gene_symbol": "THOC5",
"hgnc_id": 19074,
"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000411969.1",
"gene_symbol": "ENSG00000234208",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
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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
}