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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: 10-87190552-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87190552&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87190552,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330112.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "NM_001330112.2",
"protein_id": "NP_001317041.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 904,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": "ENST00000298786.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330112.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "ENST00000298786.5",
"protein_id": "ENSP00000298786.3",
"transcript_support_level": 5,
"aa_start": 862,
"aa_end": null,
"aa_length": 904,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": "NM_001330112.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298786.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898042.1",
"protein_id": "ENSP00000568101.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898042.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898054.1",
"protein_id": "ENSP00000568113.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2863,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898054.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898059.1",
"protein_id": "ENSP00000568118.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898059.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898090.1",
"protein_id": "ENSP00000568149.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898090.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898096.1",
"protein_id": "ENSP00000568155.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898096.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898098.1",
"protein_id": "ENSP00000568157.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898098.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000898110.1",
"protein_id": "ENSP00000568169.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2838,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898110.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000943977.1",
"protein_id": "ENSP00000614036.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943977.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000943983.1",
"protein_id": "ENSP00000614042.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943983.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000943987.1",
"protein_id": "ENSP00000614046.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943987.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Ala910Thr",
"transcript": "ENST00000943989.1",
"protein_id": "ENSP00000614048.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 952,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943989.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2680G>A",
"hgvs_p": "p.Ala894Thr",
"transcript": "ENST00000914817.1",
"protein_id": "ENSP00000584876.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 936,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2815,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914817.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Ala893Thr",
"transcript": "ENST00000943986.1",
"protein_id": "ENSP00000614045.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 935,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943986.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Ala893Thr",
"transcript": "ENST00000944001.1",
"protein_id": "ENSP00000614060.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 935,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944001.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2629G>A",
"hgvs_p": "p.Ala877Thr",
"transcript": "ENST00000943991.1",
"protein_id": "ENSP00000614050.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 919,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943991.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "ENST00000898041.1",
"protein_id": "ENSP00000568100.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 904,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 3044,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898041.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "ENST00000898049.1",
"protein_id": "ENSP00000568108.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 904,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898049.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "ENST00000898052.1",
"protein_id": "ENSP00000568111.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 904,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898052.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "ENST00000898057.1",
"protein_id": "ENSP00000568116.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 904,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898057.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHLD2",
"gene_hgnc_id": 28773,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "ENST00000898058.1",
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001330112.2",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000688214.2",
"gene_symbol": "NUTM2A-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.375-528C>T",
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},
{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "XR_001747527.1",
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"effects": [
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],
"inheritance_mode": "",
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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
}