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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: 19-49812986-AAGGCCCCACCTGCTGACGGGCGG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49812986&ref=AAGGCCCCACCTGCTGACGGGCGG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49812986,
"ref": "AAGGCCCCACCTGCTGACGGGCGG",
"alt": "A",
"effect": "frameshift_variant,splice_donor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000313777.9",
"consequences": [
{
"aa_ref": "PARQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": "p.Ala34fs",
"transcript": "NM_025129.5",
"protein_id": "NP_079405.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 418,
"cds_start": 98,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "ENST00000313777.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PARQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": "p.Ala34fs",
"transcript": "ENST00000313777.9",
"protein_id": "ENSP00000313309.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 418,
"cds_start": 98,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "NM_025129.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.301_314+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000531017.5",
"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": 1022,
"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"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.-81_-68+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "XM_011527346.2",
"protein_id": "XP_011525648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PARQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": "p.Ala34fs",
"transcript": "NM_001352262.2",
"protein_id": "NP_001339191.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 419,
"cds_start": 98,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PARQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": "p.Ala34fs",
"transcript": "NM_001171937.2",
"protein_id": "NP_001165408.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 382,
"cds_start": 98,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PARQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": "p.Ala34fs",
"transcript": "ENST00000528094.5",
"protein_id": "ENSP00000435177.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 382,
"cds_start": 98,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.-40+124_-40+146delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "NM_001363663.1",
"protein_id": "NP_001350592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.-40+124_-40+146delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000533418.5",
"protein_id": "ENSP00000431731.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PARQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": "p.Ala34fs",
"transcript": "ENST00000526575.1",
"protein_id": "ENSP00000433164.1",
"transcript_support_level": 4,
"aa_start": 33,
"aa_end": null,
"aa_length": 86,
"cds_start": 98,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.-166-273_-166-251delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000529302.1",
"protein_id": "ENSP00000471793.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000377092.8",
"protein_id": "ENSP00000366296.5",
"transcript_support_level": 5,
"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": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000525130.5",
"protein_id": "ENSP00000433492.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000525370.5",
"protein_id": "ENSP00000431420.1",
"transcript_support_level": 5,
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.-40+124_-40+146delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000525800.5",
"protein_id": "ENSP00000471319.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000526435.1",
"protein_id": "ENSP00000470155.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000527111.2",
"protein_id": "ENSP00000469856.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.98_111+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000527585.5",
"protein_id": "ENSP00000470863.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.-40+124_-40+146delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000528043.5",
"protein_id": "ENSP00000431388.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.233_246+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "ENST00000534008.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.284_297+9delCCGCCCGTCAGCAGGTGGGGCCT",
"hgvs_p": null,
"transcript": "NR_033269.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"bayesdelnoaf_score": null,
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"acmg_score": 1,
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "Short-rib thoracic dysplasia 6 with or without polydactyly",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Short-rib thoracic dysplasia 6 with or without polydactyly",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}