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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: 2-227356053-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227356053&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227356053,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000304593.14",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.744+292T>C",
"hgvs_p": null,
"transcript": "NM_001277062.2",
"protein_id": "NP_001263991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": "ENST00000304593.14",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.744+292T>C",
"hgvs_p": null,
"transcript": "ENST00000304593.14",
"protein_id": "ENSP00000304898.10",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": "NM_001277062.2",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.600+292T>C",
"hgvs_p": null,
"transcript": "ENST00000337110.11",
"protein_id": "ENSP00000338412.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1760,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.897+292T>C",
"hgvs_p": null,
"transcript": "NM_001277061.2",
"protein_id": "NP_001263990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2174,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.897+292T>C",
"hgvs_p": null,
"transcript": "NM_020194.5",
"protein_id": "NP_064579.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2014,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.897+292T>C",
"hgvs_p": null,
"transcript": "ENST00000353339.8",
"protein_id": "ENSP00000302037.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2174,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.819+292T>C",
"hgvs_p": null,
"transcript": "ENST00000707109.1",
"protein_id": "ENSP00000516738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.777+292T>C",
"hgvs_p": null,
"transcript": "ENST00000707111.1",
"protein_id": "ENSP00000516740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1628,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.771+292T>C",
"hgvs_p": null,
"transcript": "ENST00000707110.1",
"protein_id": "ENSP00000516739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1329,
"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": 8,
"intron_rank": 7,
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"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.684+292T>C",
"hgvs_p": null,
"transcript": "ENST00000456345.2",
"protein_id": "ENSP00000415313.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
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"cds_length": 816,
"cdna_start": null,
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"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": 9,
"intron_rank": 8,
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"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.663+292T>C",
"hgvs_p": null,
"transcript": "ENST00000409616.5",
"protein_id": "ENSP00000386641.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 8,
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"gene_symbol": "MFF",
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"hgvs_c": "c.627+292T>C",
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"transcript": "NM_001277068.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MFF",
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"hgvs_c": "c.600+292T>C",
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"transcript": "NM_001277063.2",
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},
{
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"strand": true,
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],
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"gene_symbol": "MFF",
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"transcript": "NM_001277064.2",
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],
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},
{
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],
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"gene_symbol": "MFF",
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],
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"transcript": "ENST00000392059.6",
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},
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],
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"intron_rank": 6,
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"hgvs_c": "c.525+292T>C",
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"transcript": "NM_001277065.2",
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},
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],
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"exon_count": 6,
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],
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},
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],
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"gene_symbol": "MFF",
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"transcript": "ENST00000524634.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MFF",
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"hgvs_c": "n.2676+292T>C",
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"transcript": "ENST00000460756.5",
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},
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