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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-71437001-C-CAAAAAAAAAAAAAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71437001&ref=C&alt=CAAAAAAAAAAAAAAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71437001,
"ref": "C",
"alt": "CAAAAAAAAAAAAAAAAA",
"effect": "intron_variant",
"transcript": "NM_001286074.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "NM_004606.5",
"protein_id": "NP_004597.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000423759.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004606.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12763_4753+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000423759.6",
"protein_id": "ENSP00000406549.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": null,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004606.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423759.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4690+12763_4690+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000373790.9",
"protein_id": "ENSP00000362895.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": null,
"cds_end": null,
"cds_length": 5559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373790.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.712+12763_712+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000437147.8",
"protein_id": "ENSP00000406517.4",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437147.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.259+12763_259+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000462588.5",
"protein_id": "ENSP00000508350.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462588.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12763_4753+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000683782.1",
"protein_id": "ENSP00000506996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": null,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4813+12763_4813+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000715246.1",
"protein_id": "ENSP00000520427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": null,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12763_4753+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000683202.1",
"protein_id": "ENSP00000507781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1877,
"cds_start": null,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683202.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "NM_001286074.2",
"protein_id": "NP_001273003.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1875,
"cds_start": null,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286074.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12763_4753+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000945393.1",
"protein_id": "ENSP00000615452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1870,
"cds_start": null,
"cds_end": null,
"cds_length": 5613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "NM_001440852.1",
"protein_id": "NP_001427781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1868,
"cds_start": null,
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"cds_length": 5607,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440852.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4690+12765_4690+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "NM_138923.4",
"protein_id": "NP_620278.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138923.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "NM_001440853.1",
"protein_id": "NP_001427782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1834,
"cds_start": null,
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"cds_length": 5505,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001440853.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4690+12765_4690+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "NM_001440854.1",
"protein_id": "NP_001427783.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440854.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4039+12763_4039+12764insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000276072.9",
"protein_id": "ENSP00000276072.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000276072.9"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 32,
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"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442391.1",
"protein_id": "XP_047298347.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047442391.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4750+12765_4750+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442392.1",
"protein_id": "XP_047298348.1",
"transcript_support_level": null,
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"aa_length": 1906,
"cds_start": null,
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"cds_length": 5721,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442392.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4690+12765_4690+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442393.1",
"protein_id": "XP_047298349.1",
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"aa_start": null,
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"feature": "XM_047442393.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4687+12765_4687+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442394.1",
"protein_id": "XP_047298350.1",
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"biotype": "protein_coding",
"feature": "XM_047442394.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442395.1",
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"biotype": "protein_coding",
"feature": "XM_047442395.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4750+12765_4750+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442396.1",
"protein_id": "XP_047298352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1872,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442396.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4750+12765_4750+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null,
"transcript": "XM_047442398.1",
"protein_id": "XP_047298354.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1867,
"cds_start": null,
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"cdna_start": null,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.4796+12765_4796+12766insAAAAAAAAAAAAAAAAA",
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"transcript": "NR_104395.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104395.2"
}
],
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.001,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001286074.2",
"gene_symbol": "TAF1",
"hgnc_id": 11535,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.4753+12765_4753+12766insAAAAAAAAAAAAAAAAA",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}