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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: 12-47802156-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47802156&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 47802156,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000080059.12",
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.70+68C>A",
"hgvs_p": null,
"transcript": "NM_015401.5",
"protein_id": "NP_056216.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": -4,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": "ENST00000080059.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.70+68C>A",
"hgvs_p": null,
"transcript": "ENST00000080059.12",
"protein_id": "ENSP00000080059.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": -4,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": "NM_015401.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.121+68C>A",
"hgvs_p": null,
"transcript": "ENST00000380610.8",
"protein_id": "ENSP00000369984.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": -4,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.70+68C>A",
"hgvs_p": null,
"transcript": "ENST00000354334.7",
"protein_id": "ENSP00000351326.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902926",
"gene_hgnc_id": null,
"hgvs_c": "n.1077G>T",
"hgvs_p": null,
"transcript": "XR_007063290.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.70+68C>A",
"hgvs_p": null,
"transcript": "NM_001368046.1",
"protein_id": "NP_001354975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.20-3184C>A",
"hgvs_p": null,
"transcript": "NM_001308090.2",
"protein_id": "NP_001295019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": -4,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.20-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000552960.5",
"protein_id": "ENSP00000448532.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": -4,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.70+68C>A",
"hgvs_p": null,
"transcript": "NM_001098416.4",
"protein_id": "NP_001091886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-48+68C>A",
"hgvs_p": null,
"transcript": "ENST00000427332.6",
"protein_id": "ENSP00000404394.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.70+68C>A",
"hgvs_p": null,
"transcript": "ENST00000430670.5",
"protein_id": "ENSP00000396159.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.20-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000440293.5",
"protein_id": "ENSP00000411058.1",
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"aa_start": null,
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"aa_length": 158,
"cds_start": -4,
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"cds_length": 479,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-48+68C>A",
"hgvs_p": null,
"transcript": "ENST00000434070.5",
"protein_id": "ENSP00000388561.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 152,
"cds_start": -4,
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"cds_length": 460,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-47-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000447463.5",
"protein_id": "ENSP00000389501.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-47-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000422254.5",
"protein_id": "ENSP00000410068.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-47-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000421231.5",
"protein_id": "ENSP00000412155.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "HDAC7",
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"hgvs_c": "c.20-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000417902.5",
"protein_id": "ENSP00000400811.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-48+68C>A",
"hgvs_p": null,
"transcript": "ENST00000450805.5",
"protein_id": "ENSP00000397236.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 579,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-47-3184C>A",
"hgvs_p": null,
"transcript": "ENST00000433685.5",
"protein_id": "ENSP00000403149.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "HDAC7",
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"hgvs_c": "c.-48+68C>A",
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"transcript": "ENST00000417107.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "c.-48+68C>A",
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"transcript": "ENST00000445237.2",
"protein_id": "ENSP00000390415.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC7",
"gene_hgnc_id": 14067,
"hgvs_c": "n.20-3504C>A",
"hgvs_p": null,
"transcript": "ENST00000425451.2",
"protein_id": "ENSP00000401872.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": 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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295324",
"gene_hgnc_id": null,
"hgvs_c": "n.164+240G>T",
"hgvs_p": null,
"transcript": "ENST00000729241.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 524,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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}