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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: 1-20684837-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20684837&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20684837,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000400463.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "NM_001122819.3",
"protein_id": "NP_001116291.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": "ENST00000400463.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "ENST00000400463.8",
"protein_id": "ENSP00000383311.3",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": "NM_001122819.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "ENST00000247986.2",
"protein_id": "ENSP00000247986.2",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Val635Ile",
"transcript": "ENST00000375044.5",
"protein_id": "ENSP00000364184.1",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 929,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 3572,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "n.351G>A",
"hgvs_p": null,
"transcript": "ENST00000477167.5",
"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": 1805,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "n.474G>A",
"hgvs_p": null,
"transcript": "ENST00000490034.5",
"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": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "NM_020816.4",
"protein_id": "NP_065867.2",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Val635Ile",
"transcript": "NM_001287212.2",
"protein_id": "NP_001274141.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 929,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426146.1",
"protein_id": "XP_047282102.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426147.1",
"protein_id": "XP_047282103.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426148.1",
"protein_id": "XP_047282104.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2203,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426149.1",
"protein_id": "XP_047282105.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2203,
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"cdna_start": 2504,
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"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426150.1",
"protein_id": "XP_047282106.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2203,
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"cds_length": 3117,
"cdna_start": 2504,
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"cdna_length": 3620,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
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"transcript": "XM_047426151.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426152.1",
"protein_id": "XP_047282108.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2203,
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"cdna_start": 2504,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426153.1",
"protein_id": "XP_047282109.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426154.1",
"protein_id": "XP_047282110.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 996,
"cds_start": 2203,
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"cdna_start": 2504,
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"cdna_length": 3483,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426155.1",
"protein_id": "XP_047282111.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 992,
"cds_start": 2203,
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"cdna_start": 2504,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426156.1",
"protein_id": "XP_047282112.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
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"hgvs_p": "p.Val735Ile",
"transcript": "XM_047426157.1",
"protein_id": "XP_047282113.1",
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"aa_start": 735,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Val635Ile",
"transcript": "XM_047426158.1",
"protein_id": "XP_047282114.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 963,
"cds_start": 1903,
"cds_end": null,
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"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
"gene_hgnc_id": 19167,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "XM_047426160.1",
"protein_id": "XP_047282116.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 589,
"cds_start": 781,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2257,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF17",
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.7,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000400463.8",
"gene_symbol": "KIF17",
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"effects": [
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],
"inheritance_mode": "Unknown",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}