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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: 22-37625898-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37625898&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37625898,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001363771.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "NM_013365.5",
"protein_id": "NP_037497.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 639,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343632.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013365.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000343632.9",
"protein_id": "ENSP00000341344.4",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 639,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013365.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343632.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000381756.9",
"protein_id": "ENSP00000371175.5",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 656,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381756.9"
},
{
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.832+2265G>A",
"hgvs_p": null,
"transcript": "ENST00000325180.12",
"protein_id": "ENSP00000321288.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325180.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000851285.1",
"protein_id": "ENSP00000521344.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 679,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851285.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000937679.1",
"protein_id": "ENSP00000607738.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937679.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "NM_001363771.2",
"protein_id": "NP_001350700.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 656,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363771.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Glu362Lys",
"transcript": "ENST00000851288.1",
"protein_id": "ENSP00000521347.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 653,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851288.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000937681.1",
"protein_id": "ENSP00000607740.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 653,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937681.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Glu358Lys",
"transcript": "ENST00000937680.1",
"protein_id": "ENSP00000607739.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 649,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937680.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000715689.1",
"protein_id": "ENSP00000520500.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 639,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715689.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000851284.1",
"protein_id": "ENSP00000521343.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 638,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851284.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "NM_001172687.2",
"protein_id": "NP_001166158.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 635,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172687.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000957662.1",
"protein_id": "ENSP00000627721.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 635,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957662.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Glu312Lys",
"transcript": "ENST00000851286.1",
"protein_id": "ENSP00000521345.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 603,
"cds_start": 934,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851286.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Glu303Lys",
"transcript": "ENST00000957660.1",
"protein_id": "ENSP00000627719.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 594,
"cds_start": 907,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957660.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"transcript": "NM_001172688.2",
"protein_id": "NP_001166159.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 566,
"cds_start": 823,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172688.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"transcript": "ENST00000406772.5",
"protein_id": "ENSP00000385287.1",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 566,
"cds_start": 823,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406772.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "ENST00000851287.1",
"protein_id": "ENSP00000521346.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 532,
"cds_start": 721,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851287.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Glu357Lys",
"transcript": "XM_011530123.3",
"protein_id": "XP_011528425.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 648,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530123.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Glu340Lys",
"transcript": "XM_005261518.3",
"protein_id": "XP_005261575.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 631,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261518.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Glu275Lys",
"transcript": "XM_006724229.2",
"protein_id": "XP_006724292.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 566,
"cds_start": 823,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}