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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: 9-16419283-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=16419283&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 16419283,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_017637.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3006G>A",
"hgvs_p": "p.Ser1002Ser",
"transcript": "NM_017637.6",
"protein_id": "NP_060107.3",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380672.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017637.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3006G>A",
"hgvs_p": "p.Ser1002Ser",
"transcript": "ENST00000380672.9",
"protein_id": "ENSP00000370047.3",
"transcript_support_level": 2,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017637.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380672.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.*350G>A",
"hgvs_p": null,
"transcript": "ENST00000545497.5",
"protein_id": "ENSP00000444640.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545497.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.*382G>A",
"hgvs_p": null,
"transcript": "ENST00000411752.5",
"protein_id": "ENSP00000392212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411752.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3117G>A",
"hgvs_p": "p.Ser1039Ser",
"transcript": "ENST00000863292.1",
"protein_id": "ENSP00000533351.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3117,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863292.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3090G>A",
"hgvs_p": "p.Ser1030Ser",
"transcript": "ENST00000863291.1",
"protein_id": "ENSP00000533350.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863291.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2991G>A",
"hgvs_p": "p.Ser997Ser",
"transcript": "ENST00000863289.1",
"protein_id": "ENSP00000533348.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2991,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863289.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2964G>A",
"hgvs_p": "p.Ser988Ser",
"transcript": "ENST00000928770.1",
"protein_id": "ENSP00000598829.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2964,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928770.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Ser972Ser",
"transcript": "ENST00000863290.1",
"protein_id": "ENSP00000533349.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863290.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2889G>A",
"hgvs_p": "p.Ser963Ser",
"transcript": "ENST00000863293.1",
"protein_id": "ENSP00000533352.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2889,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863293.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2805G>A",
"hgvs_p": "p.Ser935Ser",
"transcript": "ENST00000380667.6",
"protein_id": "ENSP00000370042.1",
"transcript_support_level": 5,
"aa_start": 935,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2805,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380667.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2742G>A",
"hgvs_p": "p.Ser914Ser",
"transcript": "ENST00000700553.1",
"protein_id": "ENSP00000515060.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2742,
"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": "ENST00000700553.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.2721G>A",
"hgvs_p": "p.Ser907Ser",
"transcript": "NM_001317940.2",
"protein_id": "NP_001304869.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2721,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317940.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3273G>A",
"hgvs_p": "p.Ser1091Ser",
"transcript": "XM_047423480.1",
"protein_id": "XP_047279436.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423480.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3198G>A",
"hgvs_p": "p.Ser1066Ser",
"transcript": "XM_047423481.1",
"protein_id": "XP_047279437.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3198,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423481.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3189G>A",
"hgvs_p": "p.Ser1063Ser",
"transcript": "XM_047423482.1",
"protein_id": "XP_047279438.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3189,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423482.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3147G>A",
"hgvs_p": "p.Ser1049Ser",
"transcript": "XM_047423483.1",
"protein_id": "XP_047279439.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3147,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423483.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3132G>A",
"hgvs_p": "p.Ser1044Ser",
"transcript": "XM_047423484.1",
"protein_id": "XP_047279440.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423484.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3126G>A",
"hgvs_p": "p.Ser1042Ser",
"transcript": "XM_047423485.1",
"protein_id": "XP_047279441.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3126,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423485.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3114G>A",
"hgvs_p": "p.Ser1038Ser",
"transcript": "XM_047423486.1",
"protein_id": "XP_047279442.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423486.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3090G>A",
"hgvs_p": "p.Ser1030Ser",
"transcript": "XM_047423487.1",
"protein_id": "XP_047279443.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423487.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BNC2",
"gene_hgnc_id": 30988,
"hgvs_c": "c.3072G>A",
"hgvs_p": "p.Ser1024Ser",
"transcript": "XM_047423488.1",
"protein_id": "XP_047279444.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3366,
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],
"gene_symbol": "BNC2",
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"dbsnp": "rs141433324",
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"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.719,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -7,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_017637.6",
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"hgnc_id": 30988,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3006G>A",
"hgvs_p": "p.Ser1002Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}