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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: 3-131029889-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=131029889&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 131029889,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000383366.9",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "NM_024800.5",
"protein_id": "NP_079076.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "ENST00000383366.9",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "ENST00000383366.9",
"protein_id": "ENSP00000372857.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "NM_024800.5",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "ENST00000510688.5",
"protein_id": "ENSP00000423458.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2754,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "ENST00000507910.5",
"protein_id": "ENSP00000426662.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "ENST00000511262.5",
"protein_id": "ENSP00000425114.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2056,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "NM_001321221.2",
"protein_id": "NP_001308150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
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"cds_length": 2064,
"cdna_start": null,
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"cdna_length": 3052,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "NM_001353022.2",
"protein_id": "NP_001339951.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 687,
"cds_start": -4,
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"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,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "NM_001321220.2",
"protein_id": "NP_001308149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.170+11A>C",
"hgvs_p": null,
"transcript": "NM_001353023.2",
"protein_id": "NP_001339952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"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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"gene_symbol": "NEK11",
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"hgvs_c": "c.170+11A>C",
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"transcript": "ENST00000508196.5",
"protein_id": "ENSP00000421851.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "NEK11",
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"hgvs_c": "c.170+11A>C",
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"transcript": "NM_001353024.2",
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},
{
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],
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],
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],
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],
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},
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],
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