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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: X-147928348-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=147928348&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 147928348,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000370475.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "NM_002024.6",
"protein_id": "NP_002015.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 632,
"cds_start": 225,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": "ENST00000370475.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000370475.9",
"protein_id": "ENSP00000359506.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 632,
"cds_start": 225,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": "NM_002024.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000218200.12",
"protein_id": "ENSP00000218200.8",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 611,
"cds_start": 225,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000439526.6",
"protein_id": "ENSP00000395923.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 592,
"cds_start": 225,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000440235.6",
"protein_id": "ENSP00000413764.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 586,
"cds_start": 225,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000621453.5",
"protein_id": "ENSP00000479528.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 548,
"cds_start": 225,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000334557.10",
"protein_id": "ENSP00000355115.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 297,
"cds_start": 225,
"cds_end": null,
"cds_length": 894,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "n.679G>A",
"hgvs_p": null,
"transcript": "ENST00000620828.4",
"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": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000690137.1",
"protein_id": "ENSP00000509813.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 615,
"cds_start": 225,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "NM_001185076.2",
"protein_id": "NP_001172005.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 611,
"cds_start": 225,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000691111.1",
"protein_id": "ENSP00000509552.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 225,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000687593.1",
"protein_id": "ENSP00000509270.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 594,
"cds_start": 225,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000370470.5",
"protein_id": "ENSP00000359501.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 590,
"cds_start": 225,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000690216.1",
"protein_id": "ENSP00000510631.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 587,
"cds_start": 225,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "NM_001185082.2",
"protein_id": "NP_001172011.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 586,
"cds_start": 225,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000370477.5",
"protein_id": "ENSP00000359508.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 582,
"cds_start": 225,
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"cdna_start": 442,
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"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000691214.1",
"protein_id": "ENSP00000510362.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 569,
"cds_start": 225,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000495717.6",
"protein_id": "ENSP00000481474.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 561,
"cds_start": 225,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000685491.1",
"protein_id": "ENSP00000509963.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 559,
"cds_start": 225,
"cds_end": null,
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"cdna_start": 326,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "NM_001185075.2",
"protein_id": "NP_001172004.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 537,
"cds_start": 225,
"cds_end": null,
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"cdna_start": 486,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000370471.7",
"protein_id": "ENSP00000359502.3",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
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"cds_start": 225,
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"cdna_start": 454,
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"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "ENST00000616382.5",
"protein_id": "ENSP00000481058.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 536,
"cds_start": 225,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMR1",
"gene_hgnc_id": 3775,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Glu75Glu",
"transcript": "NM_001185081.2",
"protein_id": "NP_001172010.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 516,
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"phenotype_combined": "not specified",
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}
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}