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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: 4-102632290-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102632290&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102632290,
"ref": "G",
"alt": "GA",
"effect": "intron_variant",
"transcript": "NM_005908.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2416-10dupT",
"hgvs_p": null,
"transcript": "NM_005908.4",
"protein_id": "NP_005899.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": null,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": "ENST00000647097.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005908.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2416-10_2416-9insT",
"hgvs_p": null,
"transcript": "ENST00000647097.2",
"protein_id": "ENSP00000495247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": null,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": "NM_005908.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647097.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2554-10_2554-9insT",
"hgvs_p": null,
"transcript": "ENST00000642252.1",
"protein_id": "ENSP00000495483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": null,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2515-10_2515-9insT",
"hgvs_p": null,
"transcript": "ENST00000954426.1",
"protein_id": "ENSP00000624485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2464-10_2464-9insT",
"hgvs_p": null,
"transcript": "ENST00000954430.1",
"protein_id": "ENSP00000624489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2639-10_2639-9insT",
"hgvs_p": null,
"transcript": "ENST00000644159.1",
"protein_id": "ENSP00000494462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": null,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2413-10_2413-9insT",
"hgvs_p": null,
"transcript": "ENST00000954427.1",
"protein_id": "ENSP00000624486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": null,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2287-10_2287-9insT",
"hgvs_p": null,
"transcript": "ENST00000921431.1",
"protein_id": "ENSP00000591490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": null,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2251-10_2251-9insT",
"hgvs_p": null,
"transcript": "ENST00000921430.1",
"protein_id": "ENSP00000591489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": null,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2245-10_2245-9insT",
"hgvs_p": null,
"transcript": "ENST00000505239.1",
"protein_id": "ENSP00000427322.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": null,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
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"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2197-10_2197-9insT",
"hgvs_p": null,
"transcript": "ENST00000921427.1",
"protein_id": "ENSP00000591486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": null,
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"cds_length": 2421,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000921427.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2182-10_2182-9insT",
"hgvs_p": null,
"transcript": "ENST00000954428.1",
"protein_id": "ENSP00000624487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"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": "ENST00000954428.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2128-10_2128-9insT",
"hgvs_p": null,
"transcript": "ENST00000910543.1",
"protein_id": "ENSP00000580602.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "MANBA",
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"transcript": "ENST00000910542.1",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2044-10_2044-9insT",
"hgvs_p": null,
"transcript": "ENST00000921426.1",
"protein_id": "ENSP00000591485.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "ENST00000921426.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "MANBA",
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"hgvs_c": "c.2005-10_2005-9insT",
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"transcript": "ENST00000954429.1",
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"biotype": "protein_coding",
"feature": "ENST00000954429.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.1672-10_1672-9insT",
"hgvs_p": null,
"transcript": "ENST00000954425.1",
"protein_id": "ENSP00000624484.1",
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"aa_start": 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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"feature": "ENST00000954425.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.1633-10_1633-9insT",
"hgvs_p": null,
"transcript": "ENST00000921429.1",
"protein_id": "ENSP00000591488.1",
"transcript_support_level": null,
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"feature": "ENST00000921429.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.1486-10_1486-9insT",
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"feature": "ENST00000921428.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MANBA",
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"hgvs_c": "c.2341-10dupT",
"hgvs_p": null,
"transcript": "XM_047415692.1",
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"feature": "XM_047415692.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.2341-10dupT",
"hgvs_p": null,
"transcript": "XM_047415693.1",
"protein_id": "XP_047271649.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415693.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.1768-10dupT",
"hgvs_p": null,
"transcript": "XM_047415694.1",
"protein_id": "XP_047271650.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 663,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415694.1"
},
{
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{
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"phenotype_combined": "Beta-D-mannosidosis",
"pathogenicity_classification_combined": "Benign",
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}
],
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}