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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: 1-150553568-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150553568&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150553568,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000271643.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_019032.6",
"protein_id": "NP_061905.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1074,
"cds_start": 577,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": "ENST00000271643.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000271643.9",
"protein_id": "ENSP00000271643.4",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 1074,
"cds_start": 577,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": "NM_019032.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000369038.6",
"protein_id": "ENSP00000358034.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 1074,
"cds_start": 577,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_001288608.2",
"protein_id": "NP_001275537.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000369039.9",
"protein_id": "ENSP00000358035.5",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000674043.1",
"protein_id": "ENSP00000501295.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_001378596.1",
"protein_id": "NP_001365525.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1074,
"cds_start": 577,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_001288607.2",
"protein_id": "NP_001275536.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1035,
"cds_start": 577,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000674058.1",
"protein_id": "ENSP00000501255.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1035,
"cds_start": 577,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_025008.5",
"protein_id": "NP_079284.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 877,
"cds_start": 577,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000369041.9",
"protein_id": "ENSP00000358037.5",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 877,
"cds_start": 577,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "XM_011509644.4",
"protein_id": "XP_011507946.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1130,
"cds_start": 676,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "XM_047422819.1",
"protein_id": "XP_047278775.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1107,
"cds_start": 676,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_011509648.4",
"protein_id": "XP_011507950.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
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"cds_length": 3294,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_017001506.3",
"protein_id": "XP_016856995.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_047422820.1",
"protein_id": "XP_047278776.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
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"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_047422823.1",
"protein_id": "XP_047278779.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_047422824.1",
"protein_id": "XP_047278780.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1097,
"cds_start": 577,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_047422830.1",
"protein_id": "XP_047278786.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1074,
"cds_start": 577,
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"cdna_start": 2798,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "XM_047422832.1",
"protein_id": "XP_047278788.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1074,
"cds_start": 577,
"cds_end": null,
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"cdna_start": 753,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "XM_011509649.4",
"protein_id": "XP_011507951.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 864,
"cds_start": 676,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
"gene_hgnc_id": 19706,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Ala226Thr",
"transcript": "XM_011509650.4",
"protein_id": "XP_011507952.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 863,
"cds_start": 676,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL4",
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000271643.9",
"gene_symbol": "ADAMTSL4",
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"inheritance_mode": "AR,AD",
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{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"gene_symbol": "ADAMTSL4-AS2",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.476+967C>T",
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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
}