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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: 1-61406543-GCCCCCCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61406543&ref=GCCCCCCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 61406543,
"ref": "GCCCCCCC",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000403491.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1255-11_1255-5delCCCCCCC",
"hgvs_p": null,
"transcript": "NM_001134673.4",
"protein_id": "NP_001128145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "ENST00000403491.8",
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1255-18_1255-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000403491.8",
"protein_id": "ENSP00000384523.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "NM_001134673.4",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1255-18_1255-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000371187.7",
"protein_id": "ENSP00000360229.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1390-11_1390-5delCCCCCCC",
"hgvs_p": null,
"transcript": "NM_001145512.2",
"protein_id": "NP_001138984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9338,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1390-18_1390-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000371189.8",
"protein_id": "ENSP00000360231.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1989,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1378-18_1378-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000699987.1",
"protein_id": "ENSP00000514740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1324-18_1324-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000371191.5",
"protein_id": "ENSP00000360233.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1294-18_1294-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000482020.2",
"protein_id": "ENSP00000474806.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": -4,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2513,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1255-18_1255-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000699965.1",
"protein_id": "ENSP00000514721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1255-18_1255-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000664149.1",
"protein_id": "ENSP00000499651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
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"cds_length": 1527,
"cdna_start": null,
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"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1231-11_1231-5delCCCCCCC",
"hgvs_p": null,
"transcript": "NM_001145511.2",
"protein_id": "NP_001138983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "NFIA",
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"hgvs_c": "c.1231-18_1231-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000407417.7",
"protein_id": "ENSP00000384680.2",
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"aa_start": null,
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"cds_start": -4,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "NFIA",
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"hgvs_c": "c.1255-11_1255-5delCCCCCCC",
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"transcript": "NM_005595.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "NFIA",
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"hgvs_c": "c.1231-18_1231-12delCCCCCCC",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 7,
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"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1189-18_1189-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000371185.6",
"protein_id": "ENSP00000360227.1",
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},
{
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"strand": true,
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],
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"intron_rank": 8,
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"gene_symbol": "NFIA",
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"hgvs_c": "c.1189-18_1189-12delCCCCCCC",
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"transcript": "ENST00000699986.1",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "NFIA",
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"hgvs_c": "c.1126-18_1126-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000485903.6",
"protein_id": "ENSP00000419785.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1009-18_1009-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000699967.1",
"protein_id": "ENSP00000514723.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "NFIA",
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"protein_id": "ENSP00000360226.1",
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],
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"gene_symbol": "NFIA",
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},
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],
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"gene_symbol": "NFIA",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.487-18_487-12delCCCCCCC",
"hgvs_p": null,
"transcript": "ENST00000663597.1",
"protein_id": "ENSP00000499597.1",
"transcript_support_level": null,
"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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"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.199-18_199-12delCCCCCCC",
"hgvs_p": null,
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}
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}