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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: 5-88890652-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88890652&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88890652,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001193347.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-239-3054C>A",
"hgvs_p": null,
"transcript": "ENST00000340208.9",
"protein_id": "ENSP00000340874.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-239-3054C>A",
"hgvs_p": null,
"transcript": "ENST00000424173.6",
"protein_id": "ENSP00000389610.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS1",
"gene_hgnc_id": 48908,
"hgvs_c": "n.197+1172G>T",
"hgvs_p": null,
"transcript": "ENST00000514011.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-239-3054C>A",
"hgvs_p": null,
"transcript": "NM_001193347.1",
"protein_id": "NP_001180276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-236-3054C>A",
"hgvs_p": null,
"transcript": "ENST00000629612.2",
"protein_id": "ENSP00000486554.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-239-3054C>A",
"hgvs_p": null,
"transcript": "NM_001131005.2",
"protein_id": "NP_001124477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-236-3054C>A",
"hgvs_p": null,
"transcript": "ENST00000625674.2",
"protein_id": "ENSP00000487430.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.-236-3054C>A",
"hgvs_p": null,
"transcript": "ENST00000627659.2",
"protein_id": "ENSP00000486490.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "n.138-3054C>A",
"hgvs_p": null,
"transcript": "ENST00000503955.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS1",
"gene_hgnc_id": 48908,
"hgvs_c": "n.31+1172G>T",
"hgvs_p": null,
"transcript": "ENST00000508521.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS1",
"gene_hgnc_id": 48908,
"hgvs_c": "n.149+1172G>T",
"hgvs_p": null,
"transcript": "ENST00000508718.7",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "MEF2C-AS1",
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"hgvs_c": "n.111+1172G>T",
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"transcript": "ENST00000509179.6",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "MEF2C-AS1",
"gene_hgnc_id": 48908,
"hgvs_c": "n.158+7167G>T",
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"transcript": "ENST00000511100.5",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
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],
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"hgvs_c": "n.80+1172G>T",
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},
{
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],
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "MEF2C-AS1",
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"hgvs_c": "n.177+1172G>T",
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"transcript": "ENST00000513704.7",
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},
{
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "MEF2C-AS1",
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"hgvs_c": "n.164+1172G>T",
"hgvs_p": null,
"transcript": "ENST00000514158.7",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MEF2C-AS1",
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"hgvs_c": "n.166+1172G>T",
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"transcript": "ENST00000514571.3",
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},
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],
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"intron_rank": 1,
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},
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],
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},
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],
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"gene_symbol": "MEF2C-AS1",
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"hgvs_c": "n.88+1172G>T",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEF2C-AS1",
"gene_hgnc_id": 48908,
"hgvs_c": "n.163+7167G>T",
"hgvs_p": null,
"transcript": "ENST00000685027.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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