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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: 12-57524366-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57524366&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57524366,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_052897.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "NM_052897.4",
"protein_id": "NP_443129.3",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1003,
"cds_start": 63,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355673.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052897.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000355673.8",
"protein_id": "ENSP00000347896.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 1003,
"cds_start": 63,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052897.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355673.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000861014.1",
"protein_id": "ENSP00000531073.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1003,
"cds_start": 63,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861014.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000861015.1",
"protein_id": "ENSP00000531074.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1003,
"cds_start": 63,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861015.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Val16Val",
"transcript": "ENST00000552659.1",
"protein_id": "ENSP00000446834.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 175,
"cds_start": 48,
"cds_end": null,
"cds_length": 530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552659.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000548887.5",
"protein_id": "ENSP00000448070.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 63,
"cds_end": null,
"cds_length": 446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548887.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000546805.5",
"protein_id": "ENSP00000449603.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 72,
"cds_start": 63,
"cds_end": null,
"cds_length": 220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546805.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000546632.1",
"protein_id": "ENSP00000448202.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 52,
"cds_start": 63,
"cds_end": null,
"cds_length": 160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546632.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000551351.5",
"protein_id": "ENSP00000450370.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 52,
"cds_start": 63,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551351.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "ENST00000552255.5",
"protein_id": "ENSP00000447365.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 44,
"cds_start": 63,
"cds_end": null,
"cds_length": 136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552255.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_005268617.3",
"protein_id": "XP_005268674.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1004,
"cds_start": 63,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268617.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_005268618.2",
"protein_id": "XP_005268675.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1004,
"cds_start": 63,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268618.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_006719217.2",
"protein_id": "XP_006719280.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1004,
"cds_start": 63,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719217.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_006719218.2",
"protein_id": "XP_006719281.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1004,
"cds_start": 63,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719218.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_011537851.4",
"protein_id": "XP_011536153.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1004,
"cds_start": 63,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537851.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_047428237.1",
"protein_id": "XP_047284193.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1003,
"cds_start": 63,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428237.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_047428238.1",
"protein_id": "XP_047284194.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1003,
"cds_start": 63,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428238.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Val21Val",
"transcript": "XM_005268620.4",
"protein_id": "XP_005268677.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 976,
"cds_start": 63,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268620.4"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "c.-175-354C>T",
"hgvs_p": null,
"transcript": "ENST00000549623.1",
"protein_id": "ENSP00000446481.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549623.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "n.63C>T",
"hgvs_p": null,
"transcript": "ENST00000549042.1",
"protein_id": "ENSP00000449541.1",
"transcript_support_level": 4,
"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": "ENST00000549042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "n.353C>T",
"hgvs_p": null,
"transcript": "ENST00000549231.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000549231.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD6",
"gene_hgnc_id": 20445,
"hgvs_c": "n.339C>T",
"hgvs_p": null,
"transcript": "XR_001748569.3",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001748569.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"computational_score_selected": -0.5,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
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"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_052897.4",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "MBD6-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MBD6-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}