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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: 2-73958194-CAAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73958194&ref=CAAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73958194,
"ref": "CAAT",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000264093.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.757_759delAAT",
"hgvs_p": "p.Asn253del",
"transcript": "NM_080916.3",
"protein_id": "NP_550438.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 277,
"cds_start": 757,
"cds_end": null,
"cds_length": 834,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": "ENST00000264093.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.757_759delAAT",
"hgvs_p": "p.Asn253del",
"transcript": "ENST00000264093.9",
"protein_id": "ENSP00000264093.4",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 277,
"cds_start": 757,
"cds_end": null,
"cds_length": 834,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": "NM_080916.3",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.*110_*112delAAT",
"hgvs_p": null,
"transcript": "ENST00000418996.5",
"protein_id": "ENSP00000408209.1",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.*374_*376delAAT",
"hgvs_p": null,
"transcript": "ENST00000629438.2",
"protein_id": "ENSP00000487122.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.*110_*112delAAT",
"hgvs_p": null,
"transcript": "ENST00000418996.5",
"protein_id": "ENSP00000408209.1",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.493_495delAAT",
"hgvs_p": "p.Asn165del",
"transcript": "NM_080918.3",
"protein_id": "NP_550440.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 189,
"cds_start": 493,
"cds_end": null,
"cds_length": 570,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.493_495delAAT",
"hgvs_p": "p.Asn165del",
"transcript": "ENST00000348222.3",
"protein_id": "ENSP00000306964.3",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 189,
"cds_start": 493,
"cds_end": null,
"cds_length": 570,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.475_477delAAT",
"hgvs_p": "p.Asn159del",
"transcript": "NM_001318859.2",
"protein_id": "NP_001305788.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 183,
"cds_start": 475,
"cds_end": null,
"cds_length": 552,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.466_468delAAT",
"hgvs_p": "p.Asn156del",
"transcript": "NM_001318860.2",
"protein_id": "NP_001305789.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 180,
"cds_start": 466,
"cds_end": null,
"cds_length": 543,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.466_468delAAT",
"hgvs_p": "p.Asn156del",
"transcript": "NM_001318861.2",
"protein_id": "NP_001305790.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 180,
"cds_start": 466,
"cds_end": null,
"cds_length": 543,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.448_450delAAT",
"hgvs_p": "p.Asn150del",
"transcript": "NM_001318862.2",
"protein_id": "NP_001305791.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 174,
"cds_start": 448,
"cds_end": null,
"cds_length": 525,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.448_450delAAT",
"hgvs_p": "p.Asn150del",
"transcript": "NM_001318863.2",
"protein_id": "NP_001305792.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 174,
"cds_start": 448,
"cds_end": null,
"cds_length": 525,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.739_741delAAT",
"hgvs_p": "p.Asn247del",
"transcript": "XM_011532647.3",
"protein_id": "XP_011530949.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 271,
"cds_start": 739,
"cds_end": null,
"cds_length": 816,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.421_423delAAT",
"hgvs_p": "p.Asn141del",
"transcript": "XM_047443587.1",
"protein_id": "XP_047299543.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 165,
"cds_start": 421,
"cds_end": null,
"cds_length": 498,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.660_662delATT",
"hgvs_p": null,
"transcript": "ENST00000413452.4",
"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": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.631_633delATT",
"hgvs_p": null,
"transcript": "ENST00000439192.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 865,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.586_588delAAT",
"hgvs_p": null,
"transcript": "ENST00000462685.1",
"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": 715,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.642_644delAAT",
"hgvs_p": null,
"transcript": "ENST00000489796.5",
"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": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.184_186delATT",
"hgvs_p": null,
"transcript": "ENST00000689317.3",
"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,
"cdna_end": null,
"cdna_length": 414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.390_392delATT",
"hgvs_p": null,
"transcript": "ENST00000701457.2",
"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,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.548_550delATT",
"hgvs_p": null,
"transcript": "ENST00000701478.2",
"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,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.365_367delATT",
"hgvs_p": null,
"transcript": "ENST00000702803.2",
"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,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.336_338delATT",
"hgvs_p": null,
"transcript": "ENST00000804869.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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}
],
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"dbsnp": "rs775276142",
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"gnomad_genomes_af": 0.0000131473,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
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"phylop100way_score": 4.288,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000264093.9",
"gene_symbol": "DGUOK",
"hgnc_id": 2858,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.757_759delAAT",
"hgvs_p": "p.Asn253del"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439192.4",
"gene_symbol": "DGUOK-AS1",
"hgnc_id": 43441,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.631_633delATT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}