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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: 14-89989085-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89989085&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89989085,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018319.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "NM_018319.4",
"protein_id": "NP_060789.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000335725.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018319.4"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000335725.9",
"protein_id": "ENSP00000337353.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_018319.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335725.9"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000393454.6",
"protein_id": "ENSP00000377099.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393454.6"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000393452.7",
"protein_id": "ENSP00000377098.3",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 589,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393452.7"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.232T>A",
"hgvs_p": "p.Tyr78Asn",
"transcript": "ENST00000556063.1",
"protein_id": "ENSP00000450795.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 280,
"cds_start": 232,
"cds_end": null,
"cds_length": 843,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*635T>A",
"hgvs_p": null,
"transcript": "ENST00000545686.6",
"protein_id": "ENSP00000444587.2",
"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": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545686.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "n.*635T>A",
"hgvs_p": null,
"transcript": "ENST00000545686.6",
"protein_id": "ENSP00000444587.2",
"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": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545686.6"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1387T>A",
"hgvs_p": "p.Tyr463Asn",
"transcript": "ENST00000935815.1",
"protein_id": "ENSP00000605874.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 675,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935815.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894818.1",
"protein_id": "ENSP00000564877.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 650,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894818.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1387T>A",
"hgvs_p": "p.Tyr463Asn",
"transcript": "ENST00000935816.1",
"protein_id": "ENSP00000605875.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 633,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935816.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1333T>A",
"hgvs_p": "p.Tyr445Asn",
"transcript": "ENST00000935818.1",
"protein_id": "ENSP00000605877.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 615,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935818.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "NM_001008744.2",
"protein_id": "NP_001008744.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008744.2"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894814.1",
"protein_id": "ENSP00000564873.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894814.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894815.1",
"protein_id": "ENSP00000564874.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894815.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894816.1",
"protein_id": "ENSP00000564875.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894816.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894817.1",
"protein_id": "ENSP00000564876.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894817.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894819.1",
"protein_id": "ENSP00000564878.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894819.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000894820.1",
"protein_id": "ENSP00000564879.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894820.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000935812.1",
"protein_id": "ENSP00000605871.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935812.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000935813.1",
"protein_id": "ENSP00000605872.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935813.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000935814.1",
"protein_id": "ENSP00000605873.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 608,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935814.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"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": "TDP1",
"gene_hgnc_id": 18884,
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn",
"transcript": "ENST00000935817.1",
"protein_id": "ENSP00000605876.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10659164190292358,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.1118,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018319.4",
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1312T>A",
"hgvs_p": "p.Tyr438Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}