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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: 4-40501253-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=40501253&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 40501253,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000295971.12",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-154-34554C>T",
"hgvs_p": null,
"transcript": "NM_001098634.2",
"protein_id": "NP_001092104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5114,
"mane_select": "ENST00000295971.12",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-154-34554C>T",
"hgvs_p": null,
"transcript": "ENST00000295971.12",
"protein_id": "ENSP00000295971.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5114,
"mane_select": "NM_001098634.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "n.-154-34554C>T",
"hgvs_p": null,
"transcript": "ENST00000510871.5",
"protein_id": "ENSP00000422945.1",
"transcript_support_level": 1,
"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": 4951,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-155+13263C>T",
"hgvs_p": null,
"transcript": "NM_001371113.1",
"protein_id": "NP_001358042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4626,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-155+13263C>T",
"hgvs_p": null,
"transcript": "ENST00000381793.6",
"protein_id": "ENSP00000371212.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4816,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-19+43174C>T",
"hgvs_p": null,
"transcript": "NM_001371114.1",
"protein_id": "NP_001358043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4522,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-19+43174C>T",
"hgvs_p": null,
"transcript": "ENST00000514014.1",
"protein_id": "ENSP00000423243.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2419,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-155+14614C>T",
"hgvs_p": null,
"transcript": "NM_019027.4",
"protein_id": "NP_061900.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-155+14614C>T",
"hgvs_p": null,
"transcript": "ENST00000381795.10",
"protein_id": "ENSP00000371214.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM47",
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"hgvs_c": "c.-154-34554C>T",
"hgvs_p": null,
"transcript": "ENST00000515053.5",
"protein_id": "ENSP00000422564.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 216,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-276+13263C>T",
"hgvs_p": null,
"transcript": "ENST00000513473.5",
"protein_id": "ENSP00000421589.1",
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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": [
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],
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"transcript": "ENST00000505414.5",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "RBM47",
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"hgvs_c": "c.-154-34554C>T",
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"transcript": "ENST00000514782.5",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "RBM47",
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"hgvs_c": "c.-154-34554C>T",
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},
{
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],
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"transcript": "ENST00000505220.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "RBM47",
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"hgvs_c": "c.-154-34554C>T",
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"transcript": "ENST00000511902.5",
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},
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],
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"gene_symbol": "RBM47",
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"hgvs_c": "c.-154-34554C>T",
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"transcript": "XM_005248103.5",
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},
{
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],
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"gene_symbol": "RBM47",
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"hgvs_c": "c.-155+14614C>T",
"hgvs_p": null,
"transcript": "XM_005248108.5",
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},
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],
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"gene_symbol": "RBM47",
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],
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "RBM47",
"gene_hgnc_id": 30358,
"hgvs_c": "c.-154-34554C>T",
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"transcript": "XM_017008308.2",
"protein_id": "XP_016863797.1",
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},
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "RBM47",
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"hgvs_c": "c.-154-34554C>T",
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"transcript": "XM_047415796.1",
"protein_id": "XP_047271752.1",
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"clinvar_disease": "",
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}
],
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}