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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: 9-124321795-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124321795&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 124321795,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000320246.10",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.405+226C>T",
"hgvs_p": null,
"transcript": "NM_014397.6",
"protein_id": "NP_055212.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": "ENST00000320246.10",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.405+226C>T",
"hgvs_p": null,
"transcript": "ENST00000320246.10",
"protein_id": "ENSP00000319734.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": "NM_014397.6",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.507+226C>T",
"hgvs_p": null,
"transcript": "ENST00000373600.7",
"protein_id": "ENSP00000362702.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3619,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.459+226C>T",
"hgvs_p": null,
"transcript": "ENST00000540326.5",
"protein_id": "ENSP00000441469.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2578,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.405+226C>T",
"hgvs_p": null,
"transcript": "ENST00000373603.5",
"protein_id": "ENSP00000362705.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3447,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.405+226C>T",
"hgvs_p": null,
"transcript": "ENST00000545174.5",
"protein_id": "ENSP00000442636.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2573,
"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,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.507+226C>T",
"hgvs_p": null,
"transcript": "NM_001145001.3",
"protein_id": "NP_001138473.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 347,
"cds_start": -4,
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"cdna_start": null,
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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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.507+226C>T",
"hgvs_p": null,
"transcript": "NM_001166171.2",
"protein_id": "NP_001159643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3621,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.507+226C>T",
"hgvs_p": null,
"transcript": "ENST00000394199.6",
"protein_id": "ENSP00000377749.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2535,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "NEK6",
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"hgvs_c": "c.480+226C>T",
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"transcript": "NM_001166169.2",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "NEK6",
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"hgvs_c": "c.480+226C>T",
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"transcript": "ENST00000539416.5",
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{
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],
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],
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],
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"transcript": "ENST00000444973.5",
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],
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