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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: 7-5528494-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5528494&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5528494,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001101.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "NM_001101.5",
"protein_id": "NP_001092.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646664.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000646664.1",
"protein_id": "ENSP00000494750.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001101.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.*252G>A",
"hgvs_p": null,
"transcript": "ENST00000425660.5",
"protein_id": "ENSP00000409264.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "n.*252G>A",
"hgvs_p": null,
"transcript": "ENST00000425660.5",
"protein_id": "ENSP00000409264.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425660.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000493945.6",
"protein_id": "ENSP00000494269.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493945.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000642480.2",
"protein_id": "ENSP00000495995.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642480.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000674681.1",
"protein_id": "ENSP00000502821.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674681.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000675515.1",
"protein_id": "ENSP00000501862.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675515.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000899420.1",
"protein_id": "ENSP00000569479.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899420.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000899421.1",
"protein_id": "ENSP00000569480.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899421.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000899425.1",
"protein_id": "ENSP00000569484.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899425.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000899429.1",
"protein_id": "ENSP00000569488.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899429.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000919306.1",
"protein_id": "ENSP00000589365.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919306.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000950579.1",
"protein_id": "ENSP00000620638.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 375,
"cds_start": 589,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950579.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Gly193Ser",
"transcript": "ENST00000919299.1",
"protein_id": "ENSP00000589358.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 371,
"cds_start": 577,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919299.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000919301.1",
"protein_id": "ENSP00000589360.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 369,
"cds_start": 589,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919301.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Ser",
"transcript": "ENST00000899427.1",
"protein_id": "ENSP00000569486.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 367,
"cds_start": 565,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899427.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Ser",
"transcript": "ENST00000899424.1",
"protein_id": "ENSP00000569483.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 366,
"cds_start": 562,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899424.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Ser",
"transcript": "ENST00000899422.1",
"protein_id": "ENSP00000569481.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 348,
"cds_start": 508,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899422.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000899426.1",
"protein_id": "ENSP00000569485.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 345,
"cds_start": 589,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899426.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000919300.1",
"protein_id": "ENSP00000589359.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 344,
"cds_start": 589,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919300.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTB",
"gene_hgnc_id": 132,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000432588.6",
"protein_id": "ENSP00000407473.2",
"transcript_support_level": 4,
"aa_start": 197,
"aa_end": null,
"aa_length": 334,
"cds_start": 589,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432588.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
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],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:3",
"phenotype_combined": "Inborn genetic diseases|not provided|Baraitser-Winter syndrome 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}