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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: 6-24556678-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24556678&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24556678,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014809.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "NM_014809.4",
"protein_id": "NP_055624.2",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378214.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014809.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "ENST00000378214.8",
"protein_id": "ENSP00000367459.3",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014809.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378214.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "ENST00000537886.5",
"protein_id": "ENSP00000439700.1",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537886.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000616673.4",
"protein_id": "ENSP00000483665.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 483,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616673.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "NM_001168375.2",
"protein_id": "NP_001161847.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168375.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "NM_001350403.2",
"protein_id": "NP_001337332.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350403.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "ENST00000901508.1",
"protein_id": "ENSP00000571567.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901508.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "ENST00000937457.1",
"protein_id": "ENSP00000607516.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937457.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923His",
"transcript": "NM_001350404.2",
"protein_id": "NP_001337333.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2768,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350404.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2759G>A",
"hgvs_p": "p.Arg920His",
"transcript": "NM_001168374.2",
"protein_id": "NP_001161846.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2759,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168374.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2759G>A",
"hgvs_p": "p.Arg920His",
"transcript": "ENST00000535378.5",
"protein_id": "ENSP00000442403.1",
"transcript_support_level": 2,
"aa_start": 920,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2759,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535378.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2693G>A",
"hgvs_p": "p.Arg898His",
"transcript": "ENST00000901509.1",
"protein_id": "ENSP00000571568.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901509.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2693G>A",
"hgvs_p": "p.Arg898His",
"transcript": "ENST00000964874.1",
"protein_id": "ENSP00000634933.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964874.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Arg896His",
"transcript": "NM_001350405.2",
"protein_id": "NP_001337334.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350405.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884His",
"transcript": "NM_001168376.2",
"protein_id": "NP_001161848.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168376.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884His",
"transcript": "NM_001350406.2",
"protein_id": "NP_001337335.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350406.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884His",
"transcript": "ENST00000430948.6",
"protein_id": "ENSP00000401086.2",
"transcript_support_level": 2,
"aa_start": 884,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430948.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "NM_001168377.2",
"protein_id": "NP_001161849.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168377.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "NM_001350407.2",
"protein_id": "NP_001337336.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 978,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350407.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "NM_001350408.2",
"protein_id": "NP_001337337.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 978,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350408.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777His",
"transcript": "NM_001350409.2",
"protein_id": "NP_001337338.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 920,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350409.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2330G>A",
"hgvs_p": "p.Arg777His",
"transcript": "NM_001350410.2",
"protein_id": "NP_001337339.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 920,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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{
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"criteria": [
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],
"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}