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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: 3-47019693-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47019693&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47019693,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000409792.4",
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7431+67C>G",
"hgvs_p": null,
"transcript": "NM_014159.7",
"protein_id": "NP_054878.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2564,
"cds_start": -4,
"cds_end": null,
"cds_length": 7695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "ENST00000409792.4",
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7431+67C>G",
"hgvs_p": null,
"transcript": "ENST00000409792.4",
"protein_id": "ENSP00000386759.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2564,
"cds_start": -4,
"cds_end": null,
"cds_length": 7695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "NM_014159.7",
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*3154+67C>G",
"hgvs_p": null,
"transcript": "ENST00000330022.11",
"protein_id": "ENSP00000332415.7",
"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": 8172,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7299+67C>G",
"hgvs_p": null,
"transcript": "NM_001349370.3",
"protein_id": "NP_001336299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2520,
"cds_start": -4,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8525,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7299+67C>G",
"hgvs_p": null,
"transcript": "ENST00000638947.2",
"protein_id": "ENSP00000491413.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2520,
"cds_start": -4,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8302,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7197+67C>G",
"hgvs_p": null,
"transcript": "ENST00000685005.1",
"protein_id": "ENSP00000509568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2486,
"cds_start": -4,
"cds_end": null,
"cds_length": 7461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8109,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.4146+67C>G",
"hgvs_p": null,
"transcript": "ENST00000686876.1",
"protein_id": "ENSP00000509591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5076,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3783+67C>G",
"hgvs_p": null,
"transcript": "ENST00000690157.1",
"protein_id": "ENSP00000509438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1348,
"cds_start": -4,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4696,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3225+67C>G",
"hgvs_p": null,
"transcript": "ENST00000691902.1",
"protein_id": "ENSP00000510234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4138,
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.2487+67C>G",
"hgvs_p": null,
"transcript": "ENST00000691544.1",
"protein_id": "ENSP00000510710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 916,
"cds_start": -4,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
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"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*2756+67C>G",
"hgvs_p": null,
"transcript": "ENST00000431180.5",
"protein_id": "ENSP00000388349.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7555,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "SETD2",
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"hgvs_c": "n.*1381+67C>G",
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"transcript": "ENST00000445387.5",
"protein_id": "ENSP00000411901.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
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"gene_symbol": "SETD2",
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"hgvs_c": "n.4240+67C>G",
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"transcript": "ENST00000685237.1",
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SETD2",
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"transcript": "ENST00000685505.1",
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},
{
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "SETD2",
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"hgvs_c": "n.1653+67C>G",
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},
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],
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"gene_symbol": "SETD2",
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},
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"consequences": [
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],
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"gene_symbol": "SETD2",
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"hgvs_c": "n.*1207+67C>G",
"hgvs_p": null,
"transcript": "ENST00000688290.1",
"protein_id": "ENSP00000509825.1",
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},
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
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"gene_symbol": "SETD2",
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"hgvs_c": "n.*286+67C>G",
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"transcript": "ENST00000690461.1",
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},
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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": "SETD2",
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"hgvs_c": "n.*1633+67C>G",
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"transcript": "ENST00000693321.1",
"protein_id": "ENSP00000508996.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.2872+67C>G",
"hgvs_p": null,
"transcript": "ENST00000693738.1",
"protein_id": null,
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},
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{
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}
],
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}