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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: 19-13047969-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13047969&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13047969,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000592199.6",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.559+22417G>A",
"hgvs_p": null,
"transcript": "NM_001365902.3",
"protein_id": "NP_001352831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "ENST00000592199.6",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.559+22417G>A",
"hgvs_p": null,
"transcript": "ENST00000592199.6",
"protein_id": "ENSP00000467512.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "NM_001365902.3",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.556+22417G>A",
"hgvs_p": null,
"transcript": "ENST00000587260.1",
"protein_id": "ENSP00000467785.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1537,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.535+22417G>A",
"hgvs_p": null,
"transcript": "ENST00000587760.5",
"protein_id": "ENSP00000466389.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1487,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.607+22417G>A",
"hgvs_p": null,
"transcript": "NM_001378405.1",
"protein_id": "NP_001365334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": -4,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5770,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.583+22417G>A",
"hgvs_p": null,
"transcript": "NM_001271043.2",
"protein_id": "NP_001257972.1",
"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": 5733,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.583+22417G>A",
"hgvs_p": null,
"transcript": "ENST00000676441.1",
"protein_id": "ENSP00000502554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1692,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.556+22417G>A",
"hgvs_p": null,
"transcript": "NM_001365984.2",
"protein_id": "NP_001352913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5862,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.535+22417G>A",
"hgvs_p": null,
"transcript": "NM_001378404.1",
"protein_id": "NP_001365333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
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"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.535+22417G>A",
"hgvs_p": null,
"transcript": "ENST00000585575.5",
"protein_id": "ENSP00000468794.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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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": 9,
"intron_rank": 1,
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"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.556+22417G>A",
"hgvs_p": null,
"transcript": "ENST00000358552.8",
"protein_id": "ENSP00000351354.5",
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},
{
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"consequences": [
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],
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"gene_symbol": "NFIX",
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},
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],
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"gene_symbol": "NFIX",
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"transcript": "NM_001440616.1",
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},
{
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],
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"gene_symbol": "NFIX",
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],
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},
{
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],
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},
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"transcript": "NM_001271044.3",
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},
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],
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"hgvs_c": "c.568+22417G>A",
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"transcript": "ENST00000360105.8",
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"intron_rank": 2,
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"transcript": "NM_001365982.2",
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],
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],
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"intron_rank": 2,
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"gene_symbol": "NFIX",
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"hgvs_c": "c.535+22417G>A",
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"transcript": "NM_001440617.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "NFIX",
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"hgvs_c": "c.376+22417G>A",
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"transcript": "ENST00000693124.1",
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}