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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: 17-46032240-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46032240&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46032240,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000432791.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "NM_015443.4",
"protein_id": "NP_056258.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "ENST00000432791.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "ENST00000432791.7",
"protein_id": "ENSP00000387393.3",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "NM_015443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "ENST00000262419.10",
"protein_id": "ENSP00000262419.6",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3368,
"cdna_end": null,
"cdna_length": 5309,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "n.7114C>A",
"hgvs_p": null,
"transcript": "ENST00000572218.5",
"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": 9095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "NM_001193466.2",
"protein_id": "NP_001180395.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "NM_001379198.1",
"protein_id": "NP_001366127.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "NM_001405854.1",
"protein_id": "NP_001392783.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "NM_001405855.1",
"protein_id": "NP_001392784.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3287,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Thr966Asn",
"transcript": "ENST00000572904.6",
"protein_id": "ENSP00000461484.1",
"transcript_support_level": 5,
"aa_start": 966,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2894C>A",
"hgvs_p": "p.Thr965Asn",
"transcript": "NM_001193465.2",
"protein_id": "NP_001180394.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2894,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2894C>A",
"hgvs_p": "p.Thr965Asn",
"transcript": "NM_001405856.1",
"protein_id": "NP_001392785.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2894,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2894C>A",
"hgvs_p": "p.Thr965Asn",
"transcript": "NM_001405857.1",
"protein_id": "NP_001392786.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2894,
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"cds_length": 3315,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2894C>A",
"hgvs_p": "p.Thr965Asn",
"transcript": "NM_001405858.1",
"protein_id": "NP_001392787.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2894,
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"cds_length": 3315,
"cdna_start": 3284,
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"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2894C>A",
"hgvs_p": "p.Thr965Asn",
"transcript": "ENST00000574590.6",
"protein_id": "ENSP00000461812.2",
"transcript_support_level": 2,
"aa_start": 965,
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"cdna_start": 3166,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2795C>A",
"hgvs_p": "p.Thr932Asn",
"transcript": "NM_001405859.1",
"protein_id": "NP_001392788.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2795C>A",
"hgvs_p": "p.Thr932Asn",
"transcript": "NM_001405860.1",
"protein_id": "NP_001392789.1",
"transcript_support_level": null,
"aa_start": 932,
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"cdna_start": 3491,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2792C>A",
"hgvs_p": "p.Thr931Asn",
"transcript": "NM_001405861.1",
"protein_id": "NP_001392790.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2792,
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"cds_length": 3213,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Thr903Asn",
"transcript": "NM_001405875.1",
"protein_id": "NP_001392804.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2708,
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"cds_length": 3129,
"cdna_start": 2958,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Thr903Asn",
"transcript": "NM_001405876.1",
"protein_id": "NP_001392805.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Thr903Asn",
"transcript": "NM_001405877.1",
"protein_id": "NP_001392806.1",
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"aa_start": 903,
"aa_end": null,
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"cds_start": 2708,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Thr903Asn",
"transcript": "NM_001405878.1",
"protein_id": "NP_001392807.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2705C>A",
"hgvs_p": "p.Thr902Asn",
"transcript": "NM_001405879.1",
"protein_id": "NP_001392808.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3126,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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{
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{
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}
],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.40932178497314453,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.914,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000432791.7",
"gene_symbol": "KANSL1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Thr966Asn"
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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
}