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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: 2-171443558-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171443558&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171443558,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_025000.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "NM_025000.4",
"protein_id": "NP_079276.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 520,
"cds_start": 270,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375255.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025000.4"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000375255.8",
"protein_id": "ENSP00000364404.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 520,
"cds_start": 270,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025000.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375255.8"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000966668.1",
"protein_id": "ENSP00000636727.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 537,
"cds_start": 270,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966668.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.261delA",
"hgvs_p": "p.Lys87fs",
"transcript": "ENST00000907633.1",
"protein_id": "ENSP00000577692.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 517,
"cds_start": 261,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907633.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000917794.1",
"protein_id": "ENSP00000587853.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 509,
"cds_start": 270,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917794.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000907636.1",
"protein_id": "ENSP00000577695.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 499,
"cds_start": 270,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907636.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000907632.1",
"protein_id": "ENSP00000577691.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 470,
"cds_start": 270,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907632.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "NM_001164821.2",
"protein_id": "NP_001158293.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 453,
"cds_start": 270,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164821.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000539783.5",
"protein_id": "ENSP00000442238.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 453,
"cds_start": 270,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539783.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000917792.1",
"protein_id": "ENSP00000587851.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 442,
"cds_start": 270,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917792.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000917795.1",
"protein_id": "ENSP00000587854.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 437,
"cds_start": 270,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917795.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000907635.1",
"protein_id": "ENSP00000577694.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 432,
"cds_start": 270,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907635.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000907634.1",
"protein_id": "ENSP00000577693.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 422,
"cds_start": 270,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907634.1"
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000917791.1",
"protein_id": "ENSP00000587850.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 402,
"cds_start": 270,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917791.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000917793.1",
"protein_id": "ENSP00000587852.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 390,
"cds_start": 270,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917793.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "ENST00000917790.1",
"protein_id": "ENSP00000587849.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 373,
"cds_start": 270,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917790.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "XM_011511881.2",
"protein_id": "XP_011510183.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 509,
"cds_start": 270,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511881.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "XM_011511882.2",
"protein_id": "XP_011510184.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 499,
"cds_start": 270,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511882.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "XM_047445911.1",
"protein_id": "XP_047301867.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 442,
"cds_start": 270,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445911.1"
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.9delA",
"hgvs_p": "p.Lys3fs",
"transcript": "XM_006712768.2",
"protein_id": "XP_006712831.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 433,
"cds_start": 9,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712768.2"
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "XM_047445912.1",
"protein_id": "XP_047301868.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 432,
"cds_start": 270,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445912.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF17",
"gene_hgnc_id": 25784,
"hgvs_c": "c.270delA",
"hgvs_p": "p.Lys90fs",
"transcript": "XM_017004996.2",
"protein_id": "XP_016860485.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 372,
"cds_start": 270,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004996.2"
},
{
"aa_ref": "K",
"aa_alt": null,
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"verdict": "Pathogenic",
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"clinvar_disease": "Woodhouse-Sakati syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Woodhouse-Sakati syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}