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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: 9-95929529-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95929529&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95929529,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000653738.2",
"consequences": [
{
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1751+665A>C",
"hgvs_p": null,
"transcript": "NM_020207.7",
"protein_id": "NP_064592.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1550,
"cds_start": -4,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10245,
"mane_select": "ENST00000653738.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1751+665A>C",
"hgvs_p": null,
"transcript": "ENST00000653738.2",
"protein_id": "ENSP00000499221.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1550,
"cds_start": -4,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10245,
"mane_select": "NM_020207.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1751+665A>C",
"hgvs_p": null,
"transcript": "ENST00000288985.13",
"protein_id": "ENSP00000288985.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*933+665A>C",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"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": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.2791+665A>C",
"hgvs_p": null,
"transcript": "ENST00000466840.5",
"protein_id": null,
"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": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*246+665A>C",
"hgvs_p": null,
"transcript": "ENST00000479391.7",
"protein_id": "ENSP00000473877.2",
"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": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1784+665A>C",
"hgvs_p": null,
"transcript": "ENST00000715566.1",
"protein_id": "ENSP00000520479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1561,
"cds_start": -4,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
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"cdna_length": 10245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1706+665A>C",
"hgvs_p": null,
"transcript": "ENST00000683937.1",
"protein_id": "ENSP00000507442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1535,
"cds_start": -4,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1751+665A>C",
"hgvs_p": null,
"transcript": "NM_001375291.1",
"protein_id": "NP_001362220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": -4,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1751+665A>C",
"hgvs_p": null,
"transcript": "NM_001375292.1",
"protein_id": "NP_001362221.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1227,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 11,
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"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.1751+665A>C",
"hgvs_p": null,
"transcript": "NM_001375293.1",
"protein_id": "NP_001362222.1",
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"cds_start": -4,
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},
{
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"strand": true,
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],
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"gene_symbol": "ERCC6L2",
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"transcript": "ENST00000683991.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "c.1751+665A>C",
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"transcript": "ENST00000683350.1",
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},
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],
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "c.1751+665A>C",
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},
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],
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"gene_symbol": "ERCC6L2",
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"transcript": "ENST00000402838.3",
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},
{
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],
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "c.1751+665A>C",
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"transcript": "NM_001010895.4",
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],
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"gene_symbol": "ERCC6L2",
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},
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],
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "n.1751+665A>C",
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"transcript": "ENST00000659728.1",
"protein_id": "ENSP00000499575.1",
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},
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],
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],
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},
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"strand": true,
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],
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"intron_rank": 10,
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "n.*933+665A>C",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "n.1751+665A>C",
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"transcript": "ENST00000682983.1",
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