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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: 5-88751851-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88751851&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 88751851,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000504921.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "NM_002397.5",
"protein_id": "NP_002388.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "ENST00000504921.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "ENST00000504921.7",
"protein_id": "ENSP00000421925.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": "NM_002397.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.643+6T>C",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "ENST00000437473.6",
"protein_id": "ENSP00000396219.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.583+6T>C",
"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": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.445+6T>C",
"hgvs_p": null,
"transcript": "ENST00000628656.2",
"protein_id": "ENSP00000487311.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.445+6T>C",
"hgvs_p": null,
"transcript": "ENST00000626391.2",
"protein_id": "ENSP00000487184.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.643+6T>C",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "NM_001193350.2",
"protein_id": "NP_001180279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "NM_001364329.2",
"protein_id": "NP_001351258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "NM_001364330.2",
"protein_id": "NP_001351259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
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"cdna_length": 7473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "NM_001364331.2",
"protein_id": "NP_001351260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "ENST00000636294.1",
"protein_id": "ENSP00000490473.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2576,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.583+6T>C",
"hgvs_p": null,
"transcript": "ENST00000625585.2",
"protein_id": "ENSP00000487538.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "NM_001308002.3",
"protein_id": "NP_001294931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
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"transcript": "NM_001364333.2",
"protein_id": "NP_001351262.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "ENST00000508569.5",
"protein_id": "ENSP00000423597.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1882,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.589+6T>C",
"hgvs_p": null,
"transcript": "ENST00000629612.2",
"protein_id": "ENSP00000486554.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 465,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.583+6T>C",
"hgvs_p": null,
"transcript": "NM_001131005.2",
"protein_id": "NP_001124477.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.583+6T>C",
"hgvs_p": null,
"transcript": "ENST00000625674.2",
"protein_id": "ENSP00000487430.1",
"transcript_support_level": 5,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.580+15T>C",
"hgvs_p": null,
"transcript": "ENST00000637481.1",
"protein_id": "ENSP00000490354.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
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"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEF2C",
"gene_hgnc_id": 6996,
"hgvs_c": "c.643+6T>C",
"hgvs_p": null,
"transcript": "NM_001364338.2",
"protein_id": "NP_001351267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
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"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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}